A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665597



Internal ID9931702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31097344..31097847hg38UCSC Ensembl
Outerchr18:31097187..31098000hg38UCSC Ensembl
Innerchr18:28677307..28677810hg19UCSC Ensembl
Outerchr18:28677150..28677963hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38814
hg19814
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5424515, essv6539276, essv6121512, essv5752045, essv5787838, essv5982292
SamplesNA19396, NA19379, NA19904, NA19439, HG01108, NA19474
Known GenesDSC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665597
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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