A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985867



Internal ID12984166
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 StatusS
Merged Variantsesv2752061
Supporting Variants
SamplesSPC_70
Known GenesTRIO
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985867
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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