A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990255



Internal ID12632069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140605460..140741460hg38UCSC Ensembl
Innerchr3:140324302..140460302hg19UCSC Ensembl
Innerchr3:141806992..141942992hg18UCSC Ensembl
Innerchr3:141807000..141943000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38136001
hg19136001
hg18136001
hg17136001
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990255
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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