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dbVar

Database of genomic structural variation

esv3817964

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:29,469

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: 466 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):22,332,085-22,361,553

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3817964	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
esv3817964	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000024.9	ChrY	24,478,232	24,507,700

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16939265	copy number loss	SAMN00004661	Sequencing	Read depth and paired-end mapping	Homozygous	2,731
essv16939266	copy number loss	SAMN00779960	Sequencing	Read depth and paired-end mapping	Homozygous	3,258
essv16939267	copy number loss	SAMN01761316	Sequencing	Read depth and paired-end mapping	Homozygous	3,322
essv16939268	copy number loss	SAMN01090786	Sequencing	Read depth and paired-end mapping	Homozygous	3,121
essv16939269	copy number gain	SAMN00249744	Sequencing	Read depth and paired-end mapping	Homozygous	2,620
essv16939270	copy number gain	SAMN01036806	Sequencing	Read depth and paired-end mapping	Homozygous	3,195
essv16939271	copy number gain	SAMN01096751	Sequencing	Read depth and paired-end mapping	Homozygous	2,759

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16939265	Remapped	Perfect	NC_000024.10:g.223 32085_22361553del	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
essv16939266	Remapped	Perfect	NC_000024.10:g.223 32085_22361553del	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
essv16939267	Remapped	Perfect	NC_000024.10:g.223 32085_22361553del	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
essv16939268	Remapped	Perfect	NC_000024.10:g.223 32085_22361553del	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
essv16939269	Remapped	Perfect	NC_000024.10:g.223 32085_22361553dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
essv16939270	Remapped	Perfect	NC_000024.10:g.223 32085_22361553dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
essv16939271	Remapped	Perfect	NC_000024.10:g.223 32085_22361553dup	GRCh38.p12	First Pass	NC_000024.10	ChrY	22,332,085	22,361,553
essv16939265	Submitted genomic		NC_000024.9:g.2447 8232_24507700del	GRCh37 (hg19)		NC_000024.9	ChrY	24,478,232	24,507,700
essv16939266	Submitted genomic		NC_000024.9:g.2447 8232_24507700del	GRCh37 (hg19)		NC_000024.9	ChrY	24,478,232	24,507,700
essv16939267	Submitted genomic		NC_000024.9:g.2447 8232_24507700del	GRCh37 (hg19)		NC_000024.9	ChrY	24,478,232	24,507,700
essv16939268	Submitted genomic		NC_000024.9:g.2447 8232_24507700del	GRCh37 (hg19)		NC_000024.9	ChrY	24,478,232	24,507,700
essv16939269	Submitted genomic		NC_000024.9:g.2447 8232_24507700dup	GRCh37 (hg19)		NC_000024.9	ChrY	24,478,232	24,507,700
essv16939270	Submitted genomic		NC_000024.9:g.2447 8232_24507700dup	GRCh37 (hg19)		NC_000024.9	ChrY	24,478,232	24,507,700
essv16939271	Submitted genomic		NC_000024.9:g.2447 8232_24507700dup	GRCh37 (hg19)		NC_000024.9	ChrY	24,478,232	24,507,700

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.

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