A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596023



Internal ID6983341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:43764311..43767856hg38UCSC Ensembl
Innerchr3:43764318..43767850hg38UCSC Ensembl
Outerchr3:43764305..43767863hg38UCSC Ensembl
chr3:43805803..43809348hg19UCSC Ensembl
Innerchr3:43805810..43809342hg19UCSC Ensembl
Outerchr3:43805797..43809355hg19UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg383546
hg193546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10993174, essv10993173
SamplesNA18977, HG01131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596023
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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