A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980059



Internal ID12981192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41405105..41453105hg38UCSC Ensembl
Innerchr3:41446596..41494596hg19UCSC Ensembl
Innerchr3:41421600..41469600hg18UCSC Ensembl
Innerchr3:41421600..41469600hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3848001
hg1948001
hg1848001
hg1748001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34828
Supporting Variants
SamplesNA18947
Known GenesULK4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980059
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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