A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1112e199



Internal ID11593371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32658868..32680615hg38UCSC Ensembl
chr6:32626645..32648392hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3821748
hg1921748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663133, esv2674065
SamplesHG00613, NA19012, HG00537, HG00536, NA20787, NA20514, NA18951, NA20522, HG00619, NA20526, HG00418, NA20785, NA19081, HG00437, HG00500, HG00464, HG00596, NA20544, HG00565, NA20508, HG00449, NA19060, NA20759, HG00463, HG00657, HG00614, NA20808, NA18953, NA20816, HG00428, NA18947, NA19010, NA20786, HG00701, HG00683, NA20805, HG00404, HG00651, NA19004, HG00578, NA18965, NA19084, NA20521, NA18943, NA20770, NA20532, HG00556, NA19067, NA20505, NA19059, NA19076, NA20819, HG00472, HG00421, HG00583, NA19057, NA19068, NA20811, NA18960, NA20757, HG00610, HG00692, HG00689, NA19088, HG00628, NA18956, NA19066, NA20765, HG00419, NA18973, HG00634, NA18982, NA19056, HG00584, HG00436, HG00620, NA20536, NA20760, NA20512, HG00629, NA20790, NA18986, HG00559, NA20753, NA20540, NA18977, HG00501, HG00672, NA20814, NA20818, HG00478, NA18942, NA18961, NA20774, NA20828, NA20797, HG00524, HG00512, HG00534, NA20766, HG00525, NA19074, NA20813, NA18985, HG00589, NA18940, NA18987, NA18999, NA20581, HG00427, NA20537, HG00590, HG00595, NA18983, HG00443, HG00611, HG00650, NA19009, HG00663, NA18989, HG00580, HG00448, HG00608, NA20509, NA20513, HG00530, NA19064, NA18944, NA19063, NA20812, HG00656, HG00422, HG00708, NA19070, HG00693, HG00566, NA20768, HG00690, NA20528, HG00442, HG00473, NA18981, NA20524, NA20804, HG00684, HG00476, HG00671, NA20517, NA20772, NA20538, HG00702, HG00704, NA19007, NA20519, NA19058, HG00531, NA18980
Known GenesHLA-DQB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1112e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss157
Observed Complex0
Frequencyn/a


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