Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3868036

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:1
Validation:Not tested
Clinical Assertions: No
Region Size:58,214

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: 295 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):74,014,370-74,072,583

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3868036	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	74,014,370	74,072,583
esv3868036	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	74,408,150	74,466,363

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22889448	deletion	HG03817	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,219

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22889448	Remapped	Perfect	NC_000012.12:g.740 14370_74072583del	GRCh38.p12	First Pass	NC_000012.12	Chr12	74,014,370	74,072,583
essv22889448	Submitted genomic		NC_000012.11:g.744 08150_74466363del	GRCh37 (hg19)		NC_000012.11	Chr12	74,408,150	74,466,363

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.

You are here: NCBI