A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752017



Internal ID12985569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75343222..75705553hg38UCSC Ensembl
Innerchr3:75392373..75754704hg19UCSC Ensembl
Innerchr3:75475063..75837394hg18UCSC Ensembl
Innerchr3:75475063..75837394hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38362332
hg19362332
hg18362332
hg17362332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv181e55
Supporting Variantsessv6984771, essv6990020
SamplesSPC_178
Known GenesFAM86DP, FLJ20518, FRG2C, LINC00960, MIR1324
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)esv2752017
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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