esv3631075

Organism: Homo sapiens

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

Variant Calls:12
Validation:Not tested
Clinical Assertions: No
Region Size:15,433

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: 550 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):126,513,290-126,528,909

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3631075	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
esv3631075	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14626322	deletion	SAMN00006359	Sequencing	Read depth and paired-end mapping	Heterozygous	2,753
essv14626323	deletion	SAMN00016852	Sequencing	Read depth and paired-end mapping	Heterozygous	2,768
essv14626324	deletion	SAMN00016857	Sequencing	Read depth and paired-end mapping	Heterozygous	2,797
essv14626325	deletion	SAMN00263023	Sequencing	Read depth and paired-end mapping	Heterozygous	2,718
essv14626326	deletion	SAMN00630232	Sequencing	Read depth and paired-end mapping	Heterozygous	3,247
essv14626327	deletion	SAMN01096695	Sequencing	Read depth and paired-end mapping	Heterozygous	2,547
essv14626328	deletion	SAMN00801770	Sequencing	Read depth and paired-end mapping	Heterozygous	2,626
essv14626329	deletion	SAMN00007780	Sequencing	Read depth and paired-end mapping	Heterozygous	2,316
essv14626330	deletion	SAMN00001241	Sequencing	Read depth and paired-end mapping	Heterozygous	2,849
essv14626331	deletion	SAMN00001248	Sequencing	Read depth and paired-end mapping	Heterozygous	2,802
essv14626332	deletion	SAMN00007956	Sequencing	Read depth and paired-end mapping	Heterozygous	2,498
essv14626333	deletion	SAMN00007958	Sequencing	Read depth and paired-end mapping	Heterozygous	2,677

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14626322	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626323	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626324	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626325	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626326	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626327	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626328	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626329	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626330	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626331	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626332	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626333	Remapped	Perfect	NC_000012.12:g.(12 6513290_126513396) _(126528828_126528 909)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	126,513,396 (-106, +0)	126,528,828 (-0, +81)
essv14626322	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626323	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626324	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626325	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626326	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626327	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626328	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626329	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626330	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626331	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626332	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)
essv14626333	Submitted genomic		NC_000012.11:g.(12 6997836_126997942) _(127013374_127013 455)del	GRCh37 (hg19)		NC_000012.11	Chr12	126,997,942 (-106, +0)	127,013,374 (-0, +81)

dbVar

Database of genomic structural variation

esv3631075

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.