esv3630967

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:31
Validation:Not tested
Clinical Assertions: No
Region Size:15,696

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 236 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):122,149,511-122,167,206

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3630967	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
esv3630967	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14620041	deletion	SAMN00009136	Sequencing	Read depth and paired-end mapping	Heterozygous	2,650
essv14620042	deletion	SAMN00009204	Sequencing	Read depth and paired-end mapping	Heterozygous	2,232
essv14620043	deletion	SAMN00009250	Sequencing	Read depth and paired-end mapping	Heterozygous	2,749
essv14620044	deletion	SAMN01091135	Sequencing	Read depth and paired-end mapping	Heterozygous	2,465
essv14620045	deletion	SAMN01091042	Sequencing	Read depth and paired-end mapping	Heterozygous	2,882
essv14620046	deletion	SAMN00630252	Sequencing	Read depth and paired-end mapping	Heterozygous	2,909
essv14620047	deletion	SAMN00779963	Sequencing	Read depth and paired-end mapping	Heterozygous	3,112
essv14620048	deletion	SAMN01036713	Sequencing	Read depth and paired-end mapping	Heterozygous	3,109
essv14620049	deletion	SAMN01036718	Sequencing	Read depth and paired-end mapping	Heterozygous	3,203
essv14620050	deletion	SAMN01036719	Sequencing	Read depth and paired-end mapping	Heterozygous	3,186
essv14620051	deletion	SAMN01036776	Sequencing	Read depth and paired-end mapping	Heterozygous	2,914
essv14620052	deletion	SAMN01090871	Sequencing	Read depth and paired-end mapping	Heterozygous	2,942
essv14620053	deletion	SAMN01036745	Sequencing	Read depth and paired-end mapping	Heterozygous	3,004
essv14620054	deletion	SAMN01036778	Sequencing	Read depth and paired-end mapping	Heterozygous	3,213
essv14620055	deletion	SAMN01036803	Sequencing	Read depth and paired-end mapping	Heterozygous	3,095
essv14620056	deletion	SAMN01761290	Sequencing	Read depth and paired-end mapping	Heterozygous	3,254
essv14620057	deletion	SAMN01036818	Sequencing	Read depth and paired-end mapping	Heterozygous	3,167
essv14620058	deletion	SAMN01090886	Sequencing	Read depth and paired-end mapping	Heterozygous	3,245
essv14620059	deletion	SAMN01761304	Sequencing	Read depth and paired-end mapping	Heterozygous	3,309
essv14620060	deletion	SAMN01761246	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317
essv14620061	deletion	SAMN01761319	Sequencing	Read depth and paired-end mapping	Heterozygous	3,229
essv14620062	deletion	SAMN01761350	Sequencing	Read depth and paired-end mapping	Heterozygous	2,677
essv14620063	deletion	SAMN01090814	Sequencing	Read depth and paired-end mapping	Heterozygous	2,940
essv14620064	deletion	SAMN00001049	Sequencing	Read depth and paired-end mapping	Heterozygous	2,971
essv14620065	deletion	SAMN00001668	Sequencing	Read depth and paired-end mapping	Heterozygous	3,334
essv14620066	deletion	SAMN00001675	Sequencing	Read depth and paired-end mapping	Heterozygous	2,942
essv14620067	deletion	SAMN00000574	Sequencing	Read depth and paired-end mapping	Heterozygous	3,099
essv14620068	deletion	SAMN00001113	Sequencing	Read depth and paired-end mapping	Heterozygous	2,558
essv14620069	deletion	SAMN00001186	Sequencing	Read depth and paired-end mapping	Heterozygous	3,005
essv14620070	deletion	SAMN00007823	Sequencing	Read depth and paired-end mapping	Heterozygous	3,289
essv14620071	deletion	SAMN00007864	Sequencing	Read depth and paired-end mapping	Heterozygous	2,390

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14620041	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620042	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620043	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620044	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620045	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620046	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620047	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620048	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620049	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620050	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620051	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620052	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620053	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620054	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620055	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620056	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620057	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620058	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620059	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620060	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620061	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620062	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620063	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620064	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620065	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620066	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620067	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620068	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620069	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620070	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620071	Remapped	Perfect	NC_000012.12:g.(12 2149511_122151011) _(122165706_122167 206)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	122,150,511 (-1000, +500)	122,166,206 (-500, +1000)
essv14620041	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620042	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620043	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620044	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620045	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620046	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620047	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620048	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620049	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620050	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620051	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620052	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620053	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620054	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620055	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620056	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620057	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620058	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620059	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620060	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620061	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620062	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620063	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620064	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620065	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620066	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620067	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620068	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620069	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620070	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)
essv14620071	Submitted genomic		NC_000012.11:g.(12 2634058_122635558) _(122650253_122651 753)del	GRCh37 (hg19)		NC_000012.11	Chr12	122,635,058 (-1000, +500)	122,650,753 (-500, +1000)

dbVar

Database of genomic structural variation

esv3630967

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.