A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982248



Internal ID12973435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20674309hg38UCSC Ensembl
Innerchr15:20167089..20879638hg19UCSC Ensembl
Innerchr15:18427103..19139652hg18UCSC Ensembl
Innerchr15:18427103..19139652hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38712474
hg19712550
hg18712550
hg17712550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751419
Supporting Variants
SamplesBEC_406
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982248
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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