A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751977



Internal ID12638843
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 StatusM
Merged Variants
Supporting Variantsessv6988886, essv6985058, essv6987143, essv6985056, essv6985057
SamplesBEC_830
Known GenesC3orf83, CAND2, MKRN2, RAF1, RPL32, SNORA7A, TMEM40, TSEN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751977
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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