A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983044



Internal ID12628048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100623466..100723466hg38UCSC Ensembl
Innerchr3:100342310..100442310hg19UCSC Ensembl
Innerchr3:101825000..101925000hg18UCSC Ensembl
Innerchr3:101825000..101925000hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38100001
hg19100001
hg18100001
hg17100001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751966
Supporting Variants
SamplesBEC_536
Known GenesGPR128, TFG
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983044
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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