A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658016



Internal ID9577435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4542004..4547210hg38UCSC Ensembl
Outerchr19:4541633..4547580hg38UCSC Ensembl
Innerchr19:4542016..4547222hg19UCSC Ensembl
Outerchr19:4541645..4547592hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385948
hg195948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv614e199
Supporting Variantsessv5739338, essv5783551, essv5654575, essv6076260, essv5848793, essv6497523, essv6360871, essv6045170, essv6469024, essv6044004, essv5813586, essv5804496, essv5411012, essv5514529, essv6267885, essv6104927, essv5399828, essv6536429, essv6442752, essv5407723, essv5487205, essv6289958, essv5801479, essv5692779, essv6344787, essv6171017, essv5464512, essv6025335, essv5898514, essv5839911, essv6045870, essv6079371, essv5949281, essv6560248, essv5471739, essv5403614, essv5954884, essv5559462, essv6405308, essv5932843, essv6127363, essv5974394, essv6324642, essv5906055, essv5701659, essv5727479, essv5426056, essv5814292, essv5561497, essv6548075, essv5855210, essv5620903, essv6505657, essv6364854, essv6279985, essv5614064, essv6549035, essv6590462, essv6506235, essv5648620, essv6461525, essv5551654, essv6081065, essv5438573, essv5823523, essv5700930, essv6093291, essv6565146, essv6466439, essv6392815, essv5436900, essv5718526, essv6187118, essv5446664, essv5414355, essv5848790, essv5724213, essv6178774, essv5406060, essv6516209, essv6357723, essv6446033, essv5614289
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00699, HG00449, HG00654, HG00693, HG00663, HG00589, HG00501, HG00702, HG00689, HG00448, HG00634, HG00610, HG00537, HG00590, HG00512, HG00683, HG00534, HG00422, HG00705, HG00427, HG00530, HG00419, HG00464, HG00543, HG00629, HG00443, HG00596, HG00557, HG00428, HG00653, HG00701, HG00475, HG00436, HG00556, HG00584, HG00533, HG00583, HG00500, HG00619, HG00708, HG00692, HG00635, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, HG00613, HG00525, HG00704, HG00463, HG00611, HG00476, HG00625, HG00580, HG00473, HG00607, HG00662, HG00418, HG00620, HG00707, HG00672, HG00513, HG00578, HG00478, HG00421, HG00656, HG00698, HG00595, HG00472, HG00628, HG00437, HG00581
Known GenesSEMA6B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658016
Frequency
Sample Size1151
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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