A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2663949

Internal ID9583368
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54030525..54041463hg38UCSC Ensembl
chr20:52647064..52658002hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6540445, essv5799731, essv5710881, essv6042274, essv5418438, essv5510828, essv6553178, essv5691109, essv6481775, essv6109180, essv5819306, essv5753489, essv6596381, essv5945129, essv5890967, essv6445865, essv6439324, essv5465606, essv6161280, essv5476098, essv6514633, essv5727447, essv6165642, essv5649949, essv6172895, essv5540535, essv5959265, essv6266516, essv6403614, essv6515327, essv6587466, essv6008592, essv6518585, essv5784933, essv5553221, essv5840791, essv6279283, essv5458187, essv5977522, essv6509804, essv5938805, essv5444542, essv6547473, essv6183232, essv5612527, essv5995792, essv5912514
SamplesHG01353, NA20506, HG01173, HG00731, HG01079, HG00375, HG01174, NA19685, NA19648, NA19682, HG00366, HG00146, HG00737, NA19467, HG00188, NA20770, HG01550, HG01140, NA20515, NA12383, HG01124, HG00150, HG01360, HG01136, HG00114, HG00124, HG01191, HG00640, HG01073, NA19704, NA20828, NA20815, NA20582, HG01070, NA12891, HG01190, NA20534, NA20756, HG01095, NA19818, NA12878, HG01125, HG00275, HG01374, NA20524, NA19661, HG01067
Known GenesBCAS1
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2663949
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0

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