A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv137e199

Internal ID20123439
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47500010..47587849hg38UCSC Ensembl
chr10:48896245..48986792hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2673473, esv2659652
SamplesHG00323, HG00613, HG00309, HG00313, HG00537, HG00536, HG00607, HG00619, HG00344, HG00418, HG00328, HG00705, HG00437, HG00500, HG00171, HG00369, HG00274, HG00596, HG00565, HG00449, HG00310, HG00707, HG00463, HG00657, HG00614, HG00577, HG00428, HG00475, HG00375, HG00542, HG00173, HG00326, HG00190, HG00701, HG00683, HG00581, HG00404, HG00651, HG00280, HG00335, HG00557, HG00578, HG00331, HG00319, HG00699, HG00479, HG00269, HG00342, HG00266, HG00635, HG00543, HG00321, HG00339, HG00556, HG00346, HG00179, HG00593, HG00472, HG00421, HG00583, HG00610, HG00692, HG00689, HG00628, HG00338, HG00533, HG00178, HG00419, HG00174, HG00634, HG00276, HG00284, HG00403, HG00584, HG00662, HG00436, HG00267, HG00620, HG00653, HG00268, HG00325, HG00629, HG00185, HG00559, HG00176, HG00560, HG00501, HG00672, HG00273, HG00282, HG00478, 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, HG00566, HG00275, HG00324, HG00625, HG00690, HG00183, HG00442, HG00473, HG00684, HG00336, HG00476, HG00671, HG00345, HG00702, HG00704, HG00531, HG00327, HG00361
Known GenesBMS1P1, BMS1P5, GLUD1P7
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)dgv137e199
Sample Size1151
Observed Gain0
Observed Loss136
Observed Complex0

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