A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982925



Internal ID12974537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60933722..61030367hg38UCSC Ensembl
Innerchr3:60919394..61016039hg19UCSC Ensembl
Innerchr3:60894434..60991079hg18UCSC Ensembl
Innerchr3:60894434..60991079hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3896646
hg1996646
hg1896646
hg1796646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752012
Supporting Variants
SamplesBEC_527
Known GenesFHIT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982925
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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