A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662893



Internal ID9928998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128794507..128795492hg38UCSC Ensembl
chr9:131556786..131557771hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6382376, essv6295975, essv5814623, essv5998001, essv6071067, essv6055177, essv5478325, essv5493961, essv5480669, essv5450448, essv5631241, essv6286743, essv6552601, essv6102882, essv6314810, essv5702268
SamplesNA12750, HG01488, HG00247, HG00270, HG00334, NA19789, NA20536, NA12829, HG00140, HG00258, NA20804, NA07051, NA19783, HG00111, HG00342, NA11892
Known GenesTBC1D13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662893
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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