A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2671971

Internal ID9591390
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152348808..152349135hg38UCSC Ensembl
chr2:153205322..153205649hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6392474, essv5890475, essv5821863, essv5472807, essv5824969, essv6120136, essv5848615, essv6054572, essv5549274, essv5782068, essv5833722, essv5648480, essv6415664, essv6191449, essv6474947, essv5759962, essv6129408, essv5582871, essv5601295, essv5660856, essv5617777, essv5600852, essv5637169, essv6496857, essv6168077, essv5731612, essv5631057, essv5434201, essv6557306, essv6417723, essv6077244, essv6546278, essv6032530, essv6035834, essv6002027, essv6304621, essv6100053, essv6186193, essv5815087, essv5665969, essv6105975, essv5692399, essv6074654, essv6314847, essv6171475, essv6494268, essv6078942, essv6230548, essv6560131, essv6210293, essv6359682, essv6112419, essv6533138, essv5632812, essv6092353, essv6017239, essv5403851, essv6294423, essv6065421, essv5687809, essv6464062, essv6008179, essv6076789, essv5469711, essv5428118, essv6034086, essv5768331, essv5682627, essv6469366, essv6013712, essv6403162, essv5447287, essv5607592, essv6197637, essv6253382, essv5914917, essv6365003, essv5869396, essv6268621
SamplesHG01441, HG00309, NA19312, NA12489, NA19445, NA18520, NA18871, NA18933, NA18523, NA12347, NA18501, NA19311, NA19060, NA18511, NA18545, NA19334, NA19453, NA18517, HG00542, HG01491, NA18542, HG01350, HG00739, NA19379, NA18507, HG01204, NA19108, HG00353, HG00543, HG01107, HG00556, HG00472, HG00337, NA19396, NA19398, HG00149, HG00125, HG01113, NA18593, NA20341, NA19377, NA19395, HG00108, NA18572, NA19373, NA18486, NA18986, HG00263, NA18941, NA18942, HG01080, HG01351, NA19909, NA20582, HG00329, NA19382, NA12890, HG00427, NA18909, NA12749, NA19394, NA20289, NA19719, NA20287, NA19818, NA20507, NA20513, NA18917, HG01366, NA18924, HG00708, HG01125, NA19130, HG00137, NA19381, HG01110, NA20519, HG01067, HG00361
Known GenesFMNL2
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2671971
Sample Size1151
Observed Gain0
Observed Loss79
Observed Complex0

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