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dbVar

Database of genomic structural variation

esv3890517

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:2,589

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 245 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):155,916,703-155,919,348

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890517	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	155,916,731 (-28, +29)	155,919,319 (-28, +29)
esv3890517	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	155,146,395 (-28, +29)	155,148,983 (-28, +29)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25753353	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25753354	deletion	HG03756	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,417
essv25753355	deletion	NA12413	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,594
essv25753356	deletion	NA18516	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,524
essv25753357	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25753358	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25753353	Remapped	Perfect	NC_000023.11:g.(15 5916703_155916760) _(155919291_155919 348)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,916,731 (-28, +29)	155,919,319 (-28, +29)
essv25753354	Remapped	Perfect	NC_000023.11:g.(15 5916703_155916760) _(155919291_155919 348)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,916,731 (-28, +29)	155,919,319 (-28, +29)
essv25753355	Remapped	Perfect	NC_000023.11:g.(15 5916703_155916760) _(155919291_155919 348)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,916,731 (-28, +29)	155,919,319 (-28, +29)
essv25753356	Remapped	Perfect	NC_000023.11:g.(15 5916703_155916760) _(155919291_155919 348)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,916,731 (-28, +29)	155,919,319 (-28, +29)
essv25753357	Remapped	Perfect	NC_000023.11:g.(15 5916703_155916760) _(155919291_155919 348)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,916,731 (-28, +29)	155,919,319 (-28, +29)
essv25753358	Remapped	Perfect	NC_000023.11:g.(15 5916703_155916760) _(155919291_155919 348)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	155,916,731 (-28, +29)	155,919,319 (-28, +29)
essv25753353	Submitted genomic		NC_000023.10:g.(15 5146367_155146424) _(155148955_155149 012)del	GRCh37 (hg19)		NC_000023.10	ChrX	155,146,395 (-28, +29)	155,148,983 (-28, +29)
essv25753354	Submitted genomic		NC_000023.10:g.(15 5146367_155146424) _(155148955_155149 012)del	GRCh37 (hg19)		NC_000023.10	ChrX	155,146,395 (-28, +29)	155,148,983 (-28, +29)
essv25753355	Submitted genomic		NC_000023.10:g.(15 5146367_155146424) _(155148955_155149 012)del	GRCh37 (hg19)		NC_000023.10	ChrX	155,146,395 (-28, +29)	155,148,983 (-28, +29)
essv25753356	Submitted genomic		NC_000023.10:g.(15 5146367_155146424) _(155148955_155149 012)del	GRCh37 (hg19)		NC_000023.10	ChrX	155,146,395 (-28, +29)	155,148,983 (-28, +29)
essv25753357	Submitted genomic		NC_000023.10:g.(15 5146367_155146424) _(155148955_155149 012)del	GRCh37 (hg19)		NC_000023.10	ChrX	155,146,395 (-28, +29)	155,148,983 (-28, +29)
essv25753358	Submitted genomic		NC_000023.10:g.(15 5146367_155146424) _(155148955_155149 012)del	GRCh37 (hg19)		NC_000023.10	ChrX	155,146,395 (-28, +29)	155,148,983 (-28, +29)

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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