A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4141n100



Internal ID22790228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192810330..193091873hg38UCSC Ensembl
chr2:193675056..193956599hg19UCSC Ensembl
chr2:193383301..193664844hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38281544
hg19281544
hg18281544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005050, nsv1001509
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)dgv4141n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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