A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752061



Internal ID12985613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:14109346..14177931hg38UCSC Ensembl
Innerchr5:14109455..14178040hg19UCSC Ensembl
Innerchr5:14162455..14231040hg18UCSC Ensembl
Innerchr5:14162455..14231040hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3868586
hg1968586
hg1868586
hg1768586
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985867, essv6987286
SamplesSPC_70
Known GenesTRIO
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)esv2752061
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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