A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2249n100



Internal ID22788336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20336715..20638246hg38UCSC Ensembl
chr15:20541968..20843550hg19UCSC Ensembl
chr15:18801982..19103564hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38301532
hg19301583
hg18301583
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1050368, nsv1035608, nsv1052204, nsv1040699, nsv1045496, nsv1043596
Samples
Known GenesGOLGA6L6, GOLGA8CP, HERC2P3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2249n100
Frequency
Sample Size11257
Observed Gain15
Observed Loss15
Observed Complex0
Frequencyn/a


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