esv3816937

Organism: Homo sapiens

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

Variant Calls:16
Validation:Not tested
Clinical Assertions: No
Region Size:38,111

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: 524 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):125,957,814-125,997,924

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3816937	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
esv3816937	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16795623	deletion	SAMN00009088	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv16795624	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16795625	deletion	SAMN00014324	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv16795626	deletion	SAMN01761274	Sequencing	Read depth and paired-end mapping	Heterozygous	3,392
essv16795627	deletion	SAMN01090888	Sequencing	Read depth and paired-end mapping	Heterozygous	3,125
essv16795628	deletion	SAMN01761312	Sequencing	Read depth and paired-end mapping	Heterozygous	3,328
essv16795629	deletion	SAMN01761323	Sequencing	Read depth and paired-end mapping	Heterozygous	3,121
essv16795630	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16795631	deletion	SAMN01761350	Sequencing	Read depth and paired-end mapping	Heterozygous	2,677
essv16795632	deletion	SAMN01091019	Sequencing	Read depth and paired-end mapping	Heterozygous	2,777
essv16795633	deletion	SAMN00001586	Sequencing	Read depth and paired-end mapping	Heterozygous	3,256
essv16795634	deletion	SAMN00001590	Sequencing	Read depth and paired-end mapping	Heterozygous	3,076
essv16795635	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16795636	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16795637	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16795638	deletion	SAMN00001252	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16795623	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795624	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795625	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795626	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795627	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795628	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795629	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795630	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795631	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795632	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795633	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795634	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795635	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795636	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795637	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795638	Remapped	Perfect	NC_000023.11:g.(12 5957814_125959314) _(125996424_125997 924)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	125,958,814 (-1000, +500)	125,996,924 (-500, +1000)
essv16795623	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795624	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795625	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795626	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795627	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795628	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795629	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795630	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795631	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795632	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795633	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795634	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795635	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795636	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795637	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)
essv16795638	Submitted genomic		NC_000023.10:g.(12 5091796_125093296) _(125130406_125131 906)del	GRCh37 (hg19)		NC_000023.10	ChrX	125,092,796 (-1000, +500)	125,130,906 (-500, +1000)

dbVar

Database of genomic structural variation

esv3816937

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.