A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981608



Internal ID12972391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:36109315..36137995hg38UCSC Ensembl
Innerchr17:34436708..34465375hg19UCSC Ensembl
Innerchr17:31460821..31489488hg18UCSC Ensembl
Innerchr17:31460821..31489488hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3828681
hg1928668
hg1828668
hg1728668
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34338
Supporting Variants
SamplesBEC_304
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981608
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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