A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983202



Internal ID12974979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:187434510..187524510hg38UCSC Ensembl
Innerchr3:187152298..187242298hg19UCSC Ensembl
Innerchr3:188634992..188724992hg18UCSC Ensembl
Innerchr3:188635000..188725000hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3890001
hg1990001
hg1890001
hg1790001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751986
Supporting Variants
SamplesBEC_554
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983202
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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