A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10445119



Internal ID3562163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31687177..31691093hg38UCSC Ensembl
Innerchr2:31687223..31691048hg38UCSC Ensembl
Outerchr2:31687132..31691139hg38UCSC Ensembl
chr2:31912246..31916162hg19UCSC Ensembl
Innerchr2:31912292..31916117hg19UCSC Ensembl
Outerchr2:31912201..31916208hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg383917
hg193917
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590227
Supporting Variants
SamplesHG03139
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10445119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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