A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987143



Internal ID12631295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12452801..12843501hg38UCSC Ensembl
Innerchr3:12494300..12885000hg19UCSC Ensembl
Innerchr3:12469300..12860000hg18UCSC Ensembl
Innerchr3:12469300..12860000hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38390701
hg19390701
hg18390701
hg17390701
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987143
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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