A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4091n100



Internal ID22790178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:146844216..146920208hg38UCSC Ensembl
chr2:147601784..147677776hg19UCSC Ensembl
chr2:147318254..147394246hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3875993
hg1975993
hg1875993
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013102, nsv1001276
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4091n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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