A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673081



Internal ID9592500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46029727..46073598hg38UCSC Ensembl
Innerchr13:46603862..46647733hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3843872
hg1943872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6597712, essv6163670, essv5706269, essv5876394, essv6549519, essv5429829, essv6184543, essv5433125, essv5617907, essv6192830, essv5647604, essv5443027, essv6161413, essv5743889
SamplesNA18592, NA18508, NA11992, NA19238, NA10847, NA18579, NA19099, NA18909, NA19108, NA19240, NA19102, NA19116, NA18505, NA18522
Known GenesCPB2, CPB2-AS1, ZC3H13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673081
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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