A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670082



Internal ID9936187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128214384..128216760hg38UCSC Ensembl
chr11:128084279..128086655hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382377
hg192377
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6325513, essv5974012, essv6042225, essv5740210, essv5613067, essv5600286, essv6017720, essv5439749, essv5862537, essv5641118, essv5399136, essv5859364, essv5679424, essv6519998, essv5560110, essv5985144, essv6131425, essv6552854, essv6503707, essv6014439, essv6549510, essv6324474, essv6306365
SamplesNA19204, NA19920, NA18510, NA18916, NA18498, NA19238, NA19159, NA19189, NA20342, NA18867, NA19152, NA19449, NA18499, NA19453, NA19257, NA19256, NA19147, NA19435, NA19240, NA18501, NA18505, NA19346, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670082
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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