A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676765



Internal ID9596184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50938818..50941763hg38UCSC Ensembl
Outerchr13:50938781..50941813hg38UCSC Ensembl
Innerchr13:51512954..51515899hg19UCSC Ensembl
Outerchr13:51512917..51515949hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg383033
hg193033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5650346
SamplesNA19681
Known GenesRNASEH2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676765
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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