A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7358n54



Internal ID22775253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239704749..239748351hg38UCSC Ensembl
chr2:240626443..240670045hg19UCSC Ensembl
chr2:240291380..240334982hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3843603
hg1943603
hg1843603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584797, nsv584798
Samples1780862573_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7358n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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