A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675379



Internal ID9941484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62366260..62384915hg38UCSC Ensembl
chr11:62133732..62152387hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3818656
hg1918656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218e199
Supporting Variantsessv6068195, essv6268866, essv5500602, essv5564076, essv5946553, essv5703101, essv6479155, essv6326848, essv5809701, essv6109138, essv6103880, essv6028958, essv5776708, essv5706425, essv5729133, essv5716505, essv6320699, essv6455702, essv6439476, essv6428516, essv5915294, essv6005605, essv5557785
SamplesNA12045, NA19377, NA19107, NA19379, NA07347, NA19404, NA12275, HG01069, HG00118, HG01133, NA19456, HG00326, NA19403, HG00320, NA19788, HG00117, NA12827, NA18628, HG00638, NA19835, HG00620, HG00111, NA18577
Known GenesASRGL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675379
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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