esv3841366

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:19
Validation:Not tested
Clinical Assertions: No
Region Size:40,565

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 408 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):101,830,956-101,871,597

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3841366	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
esv3841366	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv19666218	deletion	HG01675	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,569
essv19666219	deletion	HG01894	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,983
essv19666220	deletion	HG02219	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	2,963
essv19666221	deletion	HG03291	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,599
essv19666222	deletion	HG03391	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,187
essv19666223	deletion	HG03397	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,073
essv19666224	deletion	NA18502	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,033
essv19666225	deletion	NA18505	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,059
essv19666226	deletion	NA18908	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,270
essv19666227	deletion	NA18915	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,326
essv19666228	deletion	NA19043	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,123
essv19666229	deletion	NA19137	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,986
essv19666230	deletion	NA19209	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,130
essv19666231	deletion	NA19310	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,602
essv19666232	deletion	NA19328	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,114
essv19666233	deletion	NA19375	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,910
essv19666234	deletion	NA19431	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,311
essv19666235	deletion	NA19701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,831
essv19666236	deletion	NA19707	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,605

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv19666218	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666219	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666220	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666221	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666222	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666223	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666224	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666225	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666226	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666227	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666228	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666229	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666230	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666231	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666232	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666233	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666234	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666235	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666236	Remapped	Perfect	NC_000005.10:g.(10 1830956_101831033) _(101871520_101871 597)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	101,830,994 (-38, +39)	101,871,558 (-38, +39)
essv19666218	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666219	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666220	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666221	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666222	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666223	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666224	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666225	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666226	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666227	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666228	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666229	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666230	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666231	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666232	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666233	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666234	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666235	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)
essv19666236	Submitted genomic		NC_000005.9:g.(101 166660_101166737)_ (101207224_1012073 01)del	GRCh37 (hg19)		NC_000005.9	Chr5	101,166,698 (-38, +39)	101,207,262 (-38, +39)

dbVar

Database of genomic structural variation

esv3841366

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.