A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12n100



Internal ID22786099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2796762..2951507hg38UCSC Ensembl
chr1:2713327..2868072hg19UCSC Ensembl
chr1:2703187..2857932hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38154746
hg19154746
hg18154746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997701, nsv1004395, nsv998848, nsv1009684, nsv1009581
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)dgv12n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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