A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978823



Internal ID12632479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20828286..20937641hg38UCSC Ensembl
Innerchr15:21033615..21142970hg19UCSC Ensembl
Innerchr15:19295027..19407629hg18UCSC Ensembl
Innerchr15:19295027..19407629hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38109356
hg19109356
hg18112603
hg17112603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34377
Supporting Variants
SamplesNA12716
Known GenesNF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978823
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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