A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984453



Internal ID12630319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2200757..3174217hg38UCSC Ensembl
Innerchr3:2242441..3215901hg19UCSC Ensembl
Innerchr3:2217441..3190901hg18UCSC Ensembl
Innerchr3:2217441..3190901hg17UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38973461
hg19973461
hg18973461
hg17973461
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751994
Supporting Variants
SamplesBEC_707
Known GenesCNTN4, CRBN, IL5RA, TRNT1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984453
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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