A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1100e199



Internal ID11593359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32473027..32589256hg38UCSC Ensembl
chr6:32440804..32557033hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38116230
hg19116230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2678322, esv2657749, esv2667865, esv2673650, esv2667674, esv2662102, esv2668759
SamplesNA20281, NA19207, NA18870, NA19248, NA19152, NA19445, NA18861, NA19436, NA18520, NA18871, NA18933, NA19404, NA18523, NA19437, NA18874, NA19209, NA18501, NA19401, NA19311, NA19469, NA18511, NA19223, NA19455, NA19435, NA19319, NA19430, NA18516, NA19317, NA19359, NA19334, NA19453, NA18517, NA19338, NA19449, NA18489, NA19461, NA19144, NA19379, NA18507, HG00334, NA19257, NA19108, NA19236, NA19355, NA19474, NA19472, NA19467, NA18873, NA19147, NA19438, NA18868, NA19463, NA19428, NA18912, NA19383, NA18934, NA18508, NA19390, HG00406, NA19197, NA19443, NA19471, NA19444, NA19396, NA19397, NA19398, NA19440, NA18916, NA19457, HG00343, NA19316, NA19324, NA19190, NA19213, NA19360, NA19313, NA19377, NA19380, NA19395, NA19153, NA19129, NA19189, NA19372, HG00360, NA19374, NA19375, NA19393, NA19373, NA19384, NA18498, NA18923, HG00255, NA18522, NA18502, NA19119, NA19098, NA18504, NA18858, NA19347, NA19332, NA19131, NA19159, NA19328, NA18910, NA19382, NA19462, NA19235, NA19376, NA18907, NA18909, NA19391, NA19394, NA19116, NA19431, NA19434, NA19446, NA19452, HG00123, NA19225, NA19327, NA18917, NA19399, NA19160, NA18924, NA19371, NA19198, NA19470, NA19315, NA19130, NA19171, NA19346, NA18853, NA19204, NA19350, HG01462, NA18908, NA19381, NA19473, NA19448, NA19468, NA19200, NA19456, NA19466, HG00381
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1100e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss144
Observed Complex0
Frequencyn/a


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