A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2176n100



Internal ID22788263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:19914102..20411461hg38UCSC Ensembl
chr15:20119355..20616714hg19UCSC Ensembl
chr15:18379369..18876728hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38497360
hg19497360
hg18497360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1052232, nsv1038908, nsv1054700, nsv1035774, nsv1046095, nsv1054042, nsv1046765, nsv1038834, nsv1049193
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2176n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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