A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751970



Internal ID12638836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100623466..100723634hg38UCSC Ensembl
Innerchr3:100342310..100442478hg19UCSC Ensembl
Innerchr3:101825000..101925168hg18UCSC Ensembl
Innerchr3:101825000..101925168hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38100169
hg19100169
hg18100169
hg17100169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985141, essv6988896, essv6987170, essv6985140
SamplesSPC_102
Known GenesGPR128, 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)esv2751970
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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