A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1522n100



Internal ID22787609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66778169..66863655hg38UCSC Ensembl
chr12:67171949..67257435hg19UCSC Ensembl
chr12:65458216..65543702hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3885487
hg1985487
hg1885487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042117, nsv1038689
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)dgv1522n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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