A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv297n100



Internal ID22786384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118431001..118506040hg38UCSC Ensembl
chr1:118973624..119048663hg19UCSC Ensembl
chr1:118775147..118850186hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3875040
hg1975040
hg1875040
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1001757, nsv1004804
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)dgv297n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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