A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751984



Internal ID12638850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:168062..253971hg38UCSC Ensembl
Innerchr3:209745..295654hg19UCSC Ensembl
Innerchr3:184745..270654hg18UCSC Ensembl
Innerchr3:184745..270654hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3885910
hg1985910
hg1885910
hg1785910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985784, essv6985786, essv6985785, essv6988985
SamplesSPC_47
Known GenesCHL1
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)esv2751984
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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