A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675321



Internal ID9941426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46060331..46061219hg38UCSC Ensembl
chr13:46634466..46635354hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6231844, essv5842889
SamplesNA19235, NA18853
Known GenesCPB2, CPB2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675321
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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