A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607812



Internal ID6648051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181095765..181183522hg38UCSC Ensembl
Innerchr5:181095915..181183372hg38UCSC Ensembl
Outerchr5:181095615..181183672hg38UCSC Ensembl
chr5:180522765..180610522hg19UCSC Ensembl
Innerchr5:180522915..180610372hg19UCSC Ensembl
Outerchr5:180522615..180610672hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3887758
hg1987758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12156910
SamplesHG01248
Known GenesOR2V1, OR2V2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607812
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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