A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978785



Internal ID12632426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:32114071..32149137hg38UCSC Ensembl
Innerchr5:32114177..32149243hg19UCSC Ensembl
Innerchr5:32149934..32185000hg18UCSC Ensembl
Innerchr5:32149934..32185000hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3835067
hg1935067
hg1835067
hg1735067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34513
Supporting Variants
SamplesNA12248
Known GenesGOLPH3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978785
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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