A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986502



Internal ID12629194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43243877..43317300hg38UCSC Ensembl
Innerchr3:43285369..43358792hg19UCSC Ensembl
Innerchr3:43260373..43333796hg18UCSC Ensembl
Innerchr3:43260373..43333796hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3873424
hg1973424
hg1873424
hg1773424
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752008
Supporting Variants
SamplesBEC_621
Known GenesSNRK
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986502
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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