A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672569



Internal ID9591988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46120865..46123071hg38UCSC Ensembl
Outerchr11:46120494..46123441hg38UCSC Ensembl
Innerchr11:46142416..46144622hg19UCSC Ensembl
Outerchr11:46142045..46144992hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5756206, essv6544473, essv5799078, essv6365074, essv5885450, essv6457945, essv5631859, essv5774964, essv6028007, essv5755142, essv6516755, essv6346097, essv5746843, essv6372882, essv5441768, essv6258580, essv6346793, essv6591520, essv5913976, essv6477388, essv6032027, essv5521315, essv5907885, essv6230397, essv5727015, essv5561299, essv6150510, essv5941583, essv6532396, essv6011434, essv5935849, essv6200724, essv5846371, essv5687802, essv6296365, essv5771806, essv6412639, essv5936340, essv6088451, essv5718832, essv5745414, essv5758280, essv6471380, essv5528135, essv5521957, essv5635872, essv5425943, essv6516197, essv5515451, essv6458017, essv5839345, essv6292340, essv6512841, essv6549047, essv6587025, essv6176875, essv6370376, essv6258988, essv6534593, essv6370316, essv5640940, essv6455437, essv5475560, essv5582753, essv6394809, essv5911095, essv5411873, essv5980061, essv6161587, essv6192339, essv6076762, essv5674827, essv5793062, essv6451639, essv5433295, essv6159587, essv5589099, essv6096859, essv6201545, essv5616595, essv6290112, essv5896595, essv5986769, essv5993729, essv5776261, essv6263547, essv5414085, essv6315805
SamplesHG00613, HG00537, HG00536, HG00607, HG00619, HG00418, HG00705, HG00437, HG00500, HG00464, HG00596, HG00565, HG00449, HG00707, HG00463, HG00657, HG00614, HG00577, HG00428, HG00475, HG00542, HG00701, HG00683, HG00698, HG00581, HG00404, HG00651, HG00557, HG00578, HG00699, HG00479, HG00635, HG00543, HG00556, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00533, HG00419, HG00634, HG00403, HG00584, HG00662, HG00436, HG00620, HG00653, HG00629, HG00559, HG00501, HG00672, HG00478, HG00513, HG00524, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00611, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00656, HG00422, HG00708, HG00693, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00476, HG00671, HG00702, HG00704, HG00531
Known GenesPHF21A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672569
Frequency
Sample Size1151
Observed Gain0
Observed Loss88
Observed Complex0
Frequencyn/a


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