A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2257n100



Internal ID22788344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:20351177..20852224hg38UCSC Ensembl
chr15:20556430..21057553hg19UCSC Ensembl
chr15:18816444..19322142hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38501048
hg19501124
hg18505699
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1037623, nsv1042528, nsv1038724, nsv1035865, nsv1044483, nsv1038903, nsv1042346, nsv1045512
Samples
Known GenesCXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, POTEB, POTEB2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2257n100
Frequency
Sample Size11257
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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