esv3620511

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:24,887

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: 530 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):42,975,232-43,000,118

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3620511	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
esv3620511	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	66,318,447	66,343,333

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13493902	copy number loss	SAMN00006538	Sequencing	Read depth and paired-end mapping	Heterozygous	2,565
essv13493903	copy number loss	SAMN00006592	Sequencing	Read depth and paired-end mapping	Heterozygous	2,776
essv13493904	copy number loss	SAMN00009149	Sequencing	Read depth and paired-end mapping	Heterozygous	2,802
essv13493905	copy number loss	SAMN00014406	Sequencing	Read depth and paired-end mapping	Heterozygous	2,581
essv13493906	copy number loss	SAMN00801126	Sequencing	Read depth and paired-end mapping	Heterozygous	2,868
essv13493907	copy number loss	SAMN00000468	Sequencing	Read depth and paired-end mapping	Heterozygous	2,686
essv13493908	copy number loss	SAMN00000546	Sequencing	Read depth and paired-end mapping	Heterozygous	3,142
essv13493909	copy number gain	SAMN01090921	Sequencing	Read depth and paired-end mapping	Heterozygous	2,868
essv13493910	copy number gain	SAMN01096742	Sequencing	Read depth and paired-end mapping	Heterozygous	2,685
essv13493911	copy number gain	SAMN01761473	Sequencing	Read depth and paired-end mapping	Heterozygous	2,882
essv13493912	copy number gain	SAMN01761518	Sequencing	Read depth and paired-end mapping	Homozygous	2,894
essv13493913	copy number gain	SAMN00000439	Sequencing	Read depth and paired-end mapping	Heterozygous	2,450

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13493902	Remapped	Perfect	NC_000009.12:g.429 75232_43000118del	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493903	Remapped	Perfect	NC_000009.12:g.429 75232_43000118del	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493904	Remapped	Perfect	NC_000009.12:g.429 75232_43000118del	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493905	Remapped	Perfect	NC_000009.12:g.429 75232_43000118del	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493906	Remapped	Perfect	NC_000009.12:g.429 75232_43000118del	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493907	Remapped	Perfect	NC_000009.12:g.429 75232_43000118del	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493908	Remapped	Perfect	NC_000009.12:g.429 75232_43000118del	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493909	Remapped	Perfect	NC_000009.12:g.429 75232_43000118dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493910	Remapped	Perfect	NC_000009.12:g.429 75232_43000118dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493911	Remapped	Perfect	NC_000009.12:g.429 75232_43000118dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493912	Remapped	Perfect	NC_000009.12:g.429 75232_43000118dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493913	Remapped	Perfect	NC_000009.12:g.429 75232_43000118dup	GRCh38.p12	First Pass	NC_000009.12	Chr9	42,975,232	43,000,118
essv13493902	Submitted genomic		NC_000009.11:g.663 18447_66343333del	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493903	Submitted genomic		NC_000009.11:g.663 18447_66343333del	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493904	Submitted genomic		NC_000009.11:g.663 18447_66343333del	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493905	Submitted genomic		NC_000009.11:g.663 18447_66343333del	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493906	Submitted genomic		NC_000009.11:g.663 18447_66343333del	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493907	Submitted genomic		NC_000009.11:g.663 18447_66343333del	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493908	Submitted genomic		NC_000009.11:g.663 18447_66343333del	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493909	Submitted genomic		NC_000009.11:g.663 18447_66343333dup	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493910	Submitted genomic		NC_000009.11:g.663 18447_66343333dup	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493911	Submitted genomic		NC_000009.11:g.663 18447_66343333dup	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493912	Submitted genomic		NC_000009.11:g.663 18447_66343333dup	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333
essv13493913	Submitted genomic		NC_000009.11:g.663 18447_66343333dup	GRCh37 (hg19)		NC_000009.11	Chr9	66,318,447	66,343,333

dbVar

Database of genomic structural variation

esv3620511

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.