A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607526



Internal ID6994458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167653781..167661843hg38UCSC Ensembl
Innerchr5:167653781..167661843hg38UCSC Ensembl
Outerchr5:167653598..167662110hg38UCSC Ensembl
chr5:167080786..167088848hg19UCSC Ensembl
Innerchr5:167080786..167088848hg19UCSC Ensembl
Outerchr5:167080603..167089115hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg388063
hg198063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12126341, essv12126340, essv12126338, essv12126343, essv12126342, essv12126344, essv12126339
SamplesHG02061, NA20822, HG01122, NA20536, HG00275, HG00373, HG00267
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607526
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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