A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv614e199



Internal ID18982668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4541633..4547580hg38UCSC Ensembl
chr19:4541645..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 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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv614e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss134
Observed Complex0
Frequencyn/a


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