A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674090



Internal ID9593509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2131351..2131735hg38UCSC Ensembl
chr19:2131350..2131734hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38385
hg19385
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674090
Frequency
Sample Size1151
Observed Gain0
Observed Loss72
Observed Complex0
Frequencyn/a


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