A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988886



Internal ID12631294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12465176..12806478hg38UCSC Ensembl
Innerchr3:12506675..12847977hg19UCSC Ensembl
Innerchr3:12481675..12822977hg18UCSC Ensembl
Innerchr3:12481675..12822977hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38341303
hg19341303
hg18341303
hg17341303
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, TMEM40, TSEN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988886
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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