A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv137e199



Internal ID20123439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:47500010..47587849hg38UCSC Ensembl
chr10:48896245..48986792hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3887840
hg1990548
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv137e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss136
Observed Complex0
Frequencyn/a


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