A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2666992

Internal ID9586411
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113836903..113837108hg38UCSC Ensembl
chr12:114274708..114274913hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6393586, essv5575121, essv6418651, essv6497501, essv5546181, essv5981271, essv5627573, essv5512659, essv5487971, essv5651788, essv6154296, essv6463656, essv6464236, essv5609829, essv5990002, essv6059452, essv6411520, essv5748016, essv5961707, essv5423742, essv5772477, essv6288467, essv6066228, essv6086815, essv6548537, essv5499604, essv6100292, essv6236243, essv5536992, essv6084448, essv5669993, essv5702764, essv6435540, essv6269306, essv6370996, essv5544480, essv5941303, essv5732954, essv6145453, essv6180116, essv6207511, essv5492525, essv6091861, essv6375646, essv5964801, essv6031527, essv6241748, essv6041951, essv5583565, essv5452483, essv5860424, essv5475672, essv6382928, essv5617757, essv5396152, essv5709814, essv5548062, essv6244619, essv5807257, essv6264687, essv6426856, essv5553691, essv6230420, essv5625694, essv5425067, essv6131684, essv6203432, essv5493308, essv6412393, essv6316662, essv5743617, essv5433176, essv6184418, essv5766824, essv6536515, essv5771679, essv6234174, essv5510393, essv5541255, essv5832189, essv6125926, essv6051750, essv5667851, essv5674351, essv5605807, essv5924010, essv6182178, essv6487922, essv5831738, essv6585444, essv5979293, essv5410585, essv6414990, essv5970612, essv6316621, essv6473461, essv6384319, essv5486124, essv5609340, essv6158804, essv6331894, essv6392376, essv6059050, essv5545596, essv5820124
SamplesHG01353, NA20785, HG01052, NA19819, HG00328, NA20752, HG00145, NA19783, NA19401, HG00463, HG00614, HG01051, HG00577, NA19788, NA20800, NA19451, NA19920, NA20778, NA18542, NA18546, NA20539, NA19834, NA18963, NA19648, HG00280, NA19257, NA11893, NA19108, NA19701, HG00319, HG00699, NA19780, NA18625, NA18873, NA18943, NA18868, HG01133, HG00342, HG00154, NA19062, NA19726, NA20819, HG01375, NA19390, NA20757, HG01048, NA20783, HG01124, NA11933, HG01360, HG01113, NA19835, NA19700, NA20341, NA18539, NA20773, HG01465, NA19703, NA12778, HG00560, NA19731, HG00265, HG00501, HG01170, HG01069, NA11892, NA18487, HG00116, HG00277, NA20774, NA19328, HG01060, HG00377, NA19318, HG01149, HG00590, HG00595, HG00443, NA20332, NA20799, NA18867, HG00138, NA18560, HG01112, NA19719, NA18602, NA19755, HG00608, HG00654, NA19452, NA11830, NA19063, HG00708, HG01108, NA20768, HG00690, NA12717, NA19350, HG01462, NA19079, NA19092, HG00702, HG00136, NA18519, NA19058
Known GenesRBM19
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2666992
Sample Size1151
Observed Gain0
Observed Loss105
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer