A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978961



Internal ID12632711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..20937612hg38UCSC Ensembl
Innerchr15:20167086..21142941hg19UCSC Ensembl
Innerchr15:18427100..19407600hg18UCSC Ensembl
Innerchr15:18427100..19407600hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38975780
hg19975856
hg18980501
hg17980501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34367
Supporting Variants
SamplesNA12812
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978961
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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