A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv614e199

Internal ID18982668
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4541633..4547580hg38UCSC Ensembl
chr19:4541645..4547592hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2658016, esv2670847
SamplesHG00323, HG00613, HG00309, HG00313, HG00537, HG00318, HG00536, HG00607, HG00182, HG00619, HG00344, HG00418, HG00328, HG00705, HG00437, HG00500, HG00274, HG00186, HG00464, HG00596, HG00449, HG00310, HG00707, HG00463, HG00428, HG00475, HG00542, HG00326, HG00190, HG00701, HG00683, HG00698, HG00334, HG00581, HG00404, HG00651, HG00280, HG00335, HG00557, HG00366, HG00578, HG00331, HG00319, HG00699, HG00353, HG00479, HG00342, HG00266, HG00635, HG00543, HG00321, HG00339, HG00556, HG00346, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00315, HG00330, HG00338, HG00533, HG00178, HG00419, HG00174, HG00634, HG00276, HG00284, HG00403, HG00343, HG00584, HG00662, HG00373, HG00436, HG00620, HG00653, HG00268, HG00325, HG00629, HG00185, HG00501, HG00672, HG00273, HG00282, HG00478, HG00277, HG00513, HG00524, HG00329, HG00512, HG00534, HG00525, HG00589, HG00427, HG00590, HG00595, HG00443, HG00181, HG00611, HG00650, HG00663, HG00580, HG00448, HG00608, HG00654, HG00530, HG00281, HG00285, HG00656, HG00422, HG00708, HG00367, HG00693, HG00320, HG00275, HG00324, HG00625, HG00690, HG00442, HG00473, HG00626, HG00684, HG00336, HG00476, HG00671, HG00345, HG00702, HG00704, HG00271, HG00278, HG00531
Known GenesSEMA6B
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)dgv614e199
Sample Size1151
Observed Gain0
Observed Loss134
Observed Complex0

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