A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5571n100



Internal ID22791658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12488191..12686504hg38UCSC Ensembl
chr5:12488303..12686616hg19UCSC Ensembl
chr5:12541303..12739616hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38198314
hg19198314
hg18198314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016102, nsv1023123
Samples
Known GenesCT49
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5571n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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