A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673266



Internal ID9592685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120295213..120299419hg38UCSC Ensembl
Outerchr12:120294842..120299789hg38UCSC Ensembl
Innerchr12:120733016..120737222hg19UCSC Ensembl
Outerchr12:120732645..120737592hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384948
hg194948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6544549, essv6182243, essv6272967, essv5903311, essv6564238, essv6513800, essv5917988, essv6094410, essv6278765, essv6012014, essv5895018, essv6067194, essv6394645, essv5594399, essv6346851, essv5637200, essv5720021, essv5563987, essv6543330, essv5885771, essv5601129, essv5677393, essv5714316, essv6359024, essv6568877, essv6207164, essv6055254, essv5947765, essv6081580, essv5634245, essv6135248, essv6194368, essv5887007, essv5713774, essv6409035, essv6496204, essv6457447, essv5547297, essv5776003, essv5660004, essv5405483, essv6262749, essv6585482, essv6051491, essv6553798, essv5737619, essv6370236, essv5565131, essv6583813, essv6192405, essv5475078, essv5917098, essv5400004, essv5582656, essv6424745, essv6211716, essv5568769, essv6311569, essv6062537, essv5681370, essv6212507, essv5714848, essv5470635, essv5501681, essv6532490, essv5635056, essv6424521, essv5805168, essv6271163, essv5995274, essv5828909, essv6002259, essv5581864
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00524, HG00699, HG00654, HG00693, HG00589, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00629, HG00443, HG00596, HG00557, HG00428, HG00701, HG00657, HG00475, HG00436, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00651, HG00690, HG00404, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00580, HG00607, HG00418, HG00620, HG00707, HG00672, HG00614, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00628, HG00437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673266
Frequency
Sample Size1151
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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