A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985058



Internal ID12631297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12465201..12806501hg38UCSC Ensembl
Innerchr3:12506700..12848000hg19UCSC Ensembl
Innerchr3:12481700..12823000hg18UCSC Ensembl
Innerchr3:12481700..12823000hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38341301
hg19341301
hg18341301
hg17341301
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)essv6985058
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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