A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982927



Internal ID12974535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60948077..60997608hg38UCSC Ensembl
Innerchr3:60933749..60983280hg19UCSC Ensembl
Innerchr3:60908789..60958320hg18UCSC Ensembl
Innerchr3:60908789..60958320hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3849532
hg1949532
hg1849532
hg1749532
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982927
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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