A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10300n54



Internal ID20143724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:10467462..10531953hg38UCSC Ensembl
chr6:10467695..10532186hg19UCSC Ensembl
chr6:10575681..10640172hg18UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg3864492
hg1964492
hg1864492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv600980, nsv600981, nsv600984, nsv600983, nsv600985
SamplesHGDP00795, HGDP00797, 1780862519_A
Known GenesGCNT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv10300n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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