A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10346n54



Internal ID20143770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29883666..29925418hg38UCSC Ensembl
chr6:29851443..29893195hg19UCSC Ensembl
chr6:29959422..30001174hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3841753
hg1941753
hg1841753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv601304, nsv601269, nsv601317, nsv601344, nsv601316, nsv601336, nsv601268, nsv601350, nsv601315, nsv601250, nsv601318, nsv601314, nsv601319, nsv601338, nsv601337, nsv601334
SamplesHGDP00835, HGDP01208, HGDP00833, HGDP01210, HGDP00491, HGDP00003, HGDP00851, HGDP01250, HGDP00772, HGDP01182, HGDP00837, HGDP00750, HGDP00189, HGDP00850, HGDP00548, HGDP00806, 1780862384_A, 1780854573_A, HGDP01211, HGDP00553, HGDP00787, HGDP00766, 1780862590_A, HGDP01263, HGDP00760, HGDP01054, HGDP00547, HGDP01205, HGDP00834, HGDP00680, HGDP01239, HGDP00845, HGDP00954, HGDP00094, HGDP00658, HGDP01203, HGDP00840, HGDP01181, HGDP00655, HGDP00556, HGDP00588, HGDP00035, HGDP00747, HGDP00839, HGDP00546, HGDP00903, HGDP01099, HGDP00841, HGDP00662, HGDP00978, HGDP00540, HGDP00634, HGDP00769, HGDP00561, HGDP00234, HGDP01255, HGDP00868, HGDP00574, HGDP00490, HGDP00818, HGDP00656, HGDP01228, HGDP00131, HGDP01027, HGDP01042, HGDP00606, HGDP00825, HGDP00663, HGDP01206, HGDP01015, HGDP00838, HGDP00859
Known GenesHCG4B, HLA-H
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10346n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss142
Observed Complex0
Frequencyn/a


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