A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv678n54



Internal ID22768573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188766205..188913906hg38UCSC Ensembl
chr1:188735336..188883037hg19UCSC Ensembl
chr1:187001959..187149660hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38147702
hg19147702
hg18147702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv548476, nsv548479, nsv548480, nsv548475, nsv548477, nsv548478
SamplesHGDP00092, HGDP01199, 1782681169_A, HGDP00948
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv678n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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