A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2674090

Internal ID9593509
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2131351..2131735hg38UCSC Ensembl
chr19:2131350..2131734hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5843918, essv5905765, essv5487310, essv5642377, essv5701090, essv5788011, essv5841771, essv5919217, essv6077431, essv5941641, essv6291996, essv6326988, essv5579841, essv6232979, essv5943122, essv5515933, essv6455355, essv6097989, essv5570184, essv5979324, essv5560443, essv6289663, essv6010324, essv5699511, essv5791579, essv5493815, essv6140610, essv5981938, essv6013242, essv5474117, essv5564834, essv6585423, essv5667175, essv6354691, essv5531184, essv6487475, essv5866592, essv5526007, essv5778972, essv5697169, essv5675370, essv5533689, essv6180080, essv6505570, essv6117244, essv6354992, essv6309583, essv5494350, essv6565330, essv6303601, essv6412816, essv6531037, essv5838086, essv5627020, essv6465908, essv5622529, essv5883443, essv5610785, essv5496960, essv5792891, essv6433091, essv5639644, essv5544631, essv5705134, essv6524910, essv5402569, essv5444367, essv5666833, essv5992188, essv6036398, essv5445756, essv6273431
SamplesNA18861, HG00318, NA19712, NA18520, NA20278, NA18871, NA19819, HG00328, NA18523, NA19437, HG00131, NA19401, NA19311, HG00449, NA19469, HG00310, HG01389, NA20296, HG00463, HG00657, NA18516, NA19331, NA19451, NA19449, HG00139, HG00651, HG00335, NA19257, NA19108, NA18505, NA19438, NA18868, HG00256, HG00154, HG00250, HG00140, NA19471, NA19398, HG00125, NA18916, HG00276, NA19313, NA19395, NA19172, NA19703, NA19384, NA18502, HG01073, NA18504, NA19704, HG00249, HG00478, NA19332, HG00329, NA19707, HG01060, NA18910, NA18597, NA19376, HG00443, NA18909, NA19394, HG00708, NA19470, HG00693, NA19130, NA19350, HG01102, HG00336, HG00704, NA19466, NA19439
Known GenesAP3D1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2674090
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0

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