A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751972



Internal ID12638838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100623649..100774218hg38UCSC Ensembl
Innerchr3:100342493..100493062hg19UCSC Ensembl
Innerchr3:101825183..101975752hg18UCSC Ensembl
Innerchr3:101825183..101975752hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38150570
hg19150570
hg18150570
hg17150570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183e55
Supporting Variantsessv6984939, essv6988869, essv6984940
SamplesSPC_195
Known GenesABI3BP, GPR128, TFG
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)esv2751972
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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