A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986478



Internal ID12629929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20646848..20937641hg38UCSC Ensembl
Innerchr15:20852150..21142970hg19UCSC Ensembl
Innerchr15:19112164..19407629hg18UCSC Ensembl
Innerchr15:19112164..19407629hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38290794
hg19290821
hg18295466
hg17295466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34600
Supporting Variants
SamplesBEC_675
Known GenesCXADRP2, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986478
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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