A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978572



Internal ID12632083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140311935..140461668hg38UCSC Ensembl
Innerchr3:140030777..140180510hg19UCSC Ensembl
Innerchr3:141513467..141663200hg18UCSC Ensembl
Innerchr3:141513475..141663208hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38149734
hg19149734
hg18149734
hg17149734
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34489
Supporting Variants
SamplesNA11994
Known GenesCLSTN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978572
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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