A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666992



Internal ID9586411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113836903..113837108hg38UCSC Ensembl
chr12:114274708..114274913hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38206
hg19206
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666992
Frequency
Sample Size1151
Observed Gain0
Observed Loss105
Observed Complex0
Frequencyn/a


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