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dbVar

Database of genomic structural variation

esv3623507

Organism: Homo sapiens

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

Variant Calls:3
Validation:Not tested
Clinical Assertions: No
Region Size:28,753

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: 184 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):63,383,440-63,412,492

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3623507	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	63,383,590 (-150, +150)	63,412,342 (-150, +150)
esv3623507	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	65,143,350 (-150, +150)	65,172,102 (-150, +150)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13835155	deletion	SAMN00779945	Sequencing	Read depth and paired-end mapping	Heterozygous	3,175
essv13835156	deletion	SAMN01090823	Sequencing	Read depth and paired-end mapping	Heterozygous	3,198
essv13835157	deletion	SAMN00001180	Sequencing	Read depth and paired-end mapping	Heterozygous	3,014

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13835155	Remapped	Perfect	NC_000010.11:g.(63 383440_63383740)_( 63412192_63412492) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	63,383,590 (-150, +150)	63,412,342 (-150, +150)
essv13835156	Remapped	Perfect	NC_000010.11:g.(63 383440_63383740)_( 63412192_63412492) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	63,383,590 (-150, +150)	63,412,342 (-150, +150)
essv13835157	Remapped	Perfect	NC_000010.11:g.(63 383440_63383740)_( 63412192_63412492) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	63,383,590 (-150, +150)	63,412,342 (-150, +150)
essv13835155	Submitted genomic		NC_000010.10:g.(65 143200_65143500)_( 65171952_65172252) del	GRCh37 (hg19)		NC_000010.10	Chr10	65,143,350 (-150, +150)	65,172,102 (-150, +150)
essv13835156	Submitted genomic		NC_000010.10:g.(65 143200_65143500)_( 65171952_65172252) del	GRCh37 (hg19)		NC_000010.10	Chr10	65,143,350 (-150, +150)	65,172,102 (-150, +150)
essv13835157	Submitted genomic		NC_000010.10:g.(65 143200_65143500)_( 65171952_65172252) del	GRCh37 (hg19)		NC_000010.10	Chr10	65,143,350 (-150, +150)	65,172,102 (-150, +150)

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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