A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668733



Internal ID9934838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48567803..48568038hg38UCSC Ensembl
chr13:49141939..49142174hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5760896, essv6352516, essv6585854, essv5731125, essv5528854, essv5464897, essv5534351, essv5462765, essv5711816, essv5735272, essv5536624, essv6421251, essv5498458, essv5410048, essv5517785
SamplesNA18502, NA11931, NA19777, HG01051, NA19315, NA18489, NA19904, NA12156, NA19451, NA19347, NA19982, NA18909, NA19473, NA19116, NA18562
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668733
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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