A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978574



Internal ID12632085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140613690..140740586hg38UCSC Ensembl
Innerchr3:140332532..140459428hg19UCSC Ensembl
Innerchr3:141815222..141942118hg18UCSC Ensembl
Innerchr3:141815230..141942126hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38126897
hg19126897
hg18126897
hg17126897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34489
Supporting Variants
SamplesNA11994
Known GenesTRIM42
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978574
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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