A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7238n54



Internal ID22775133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194311489..194427146hg38UCSC Ensembl
chr2:195176213..195291870hg19UCSC Ensembl
chr2:194884458..195000115hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38115658
hg19115658
hg18115658
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584093, nsv584092
Samples1798860114_A, HGDP00144
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7238n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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