A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663949



Internal ID9583368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54030525..54041463hg38UCSC Ensembl
chr20:52647064..52658002hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810939
hg1910939
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663949
Frequency
Sample Size1151
Observed Gain0
Observed Loss47
Observed Complex0
Frequencyn/a


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