A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv344n54



Internal ID22768239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:80793452..80878873hg38UCSC Ensembl
chr1:81259137..81344558hg19UCSC Ensembl
chr1:81031725..81117146hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3885422
hg1985422
hg1885422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv546673, nsv546672, nsv546670
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv344n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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