A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985057



Internal ID12631298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12452779..12887049hg38UCSC Ensembl
Innerchr3:12494278..12928548hg19UCSC Ensembl
Innerchr3:12469278..12903548hg18UCSC Ensembl
Innerchr3:12469278..12903548hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38434271
hg19434271
hg18434271
hg17434271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751977
Supporting Variants
SamplesBEC_830
Known GenesC3orf83, CAND2, MKRN2, RAF1, RPL32, SNORA7A, TMEM40, TSEN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985057
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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