A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4147n100



Internal ID22790234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194987690..195024992hg38UCSC Ensembl
chr2:195852414..195889716hg19UCSC Ensembl
chr2:195560659..195597961hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3837303
hg1937303
hg1837303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000769, nsv1012926
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)dgv4147n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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