A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1348e199



Internal ID18983402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:67677506..67762130hg38UCSC Ensembl
chr9:46343345..46426492hg19UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3884625
hg1983148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663411, esv2659656
SamplesHG00323, HG00613, HG00309, HG00313, HG00318, HG00607, HG00619, HG00328, HG00705, HG00437, HG00171, HG00274, HG00464, HG00565, HG00449, HG00707, HG00657, HG00614, HG00189, HG00577, HG00475, HG00542, HG00173, HG00326, HG00190, HG00683, HG00698, HG00334, HG00187, HG00404, HG00651, HG00335, HG00557, HG00578, HG00177, HG00319, HG00188, HG00353, HG00479, HG00269, HG00342, HG00592, HG00266, HG00635, HG00321, HG00339, HG00556, HG00346, HG00179, HG00593, HG00472, HG00421, HG00583, HG00337, HG00180, HG00610, HG00692, HG00689, HG00628, HG00315, HG00330, HG00338, HG00178, HG00419, HG00174, HG00634, HG00284, HG00403, HG00357, HG00343, HG00584, HG00662, HG00373, HG00267, HG00620, HG00653, HG00268, HG00325, HG00629, HG00185, HG00176, HG00560, HG00501, HG00273, HG00282, HG00478, HG00277, HG00524, HG00329, HG00512, HG00525, HG00590, HG00595, HG00650, HG00663, HG00311, HG00448, HG00608, HG00654, HG00530, HG00281, HG00285, HG00422, HG00708, HG00367, HG00693, HG00566, HG00320, HG00275, HG00324, HG00183, HG00473, HG00626, HG00476, HG00671, HG00345, HG00278, HG00531, HG00312, HG00327, HG00361
Known GenesFAM27E1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1348e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss121
Observed Complex0
Frequencyn/a


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