A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv342n54



Internal ID22768237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:80373195..80443732hg38UCSC Ensembl
chr1:80838880..80909417hg19UCSC Ensembl
chr1:80611468..80682005hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3870538
hg1970538
hg1870538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546664, nsv546663
Samples1780862001_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv342n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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