A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv340n54



Internal ID22768235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:80069803..80175840hg38UCSC Ensembl
chr1:80535488..80641525hg19UCSC Ensembl
chr1:80308076..80414113hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38106038
hg19106038
hg18106038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546659, nsv546657
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv340n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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