A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980853



Internal ID12635481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172671392..172730392hg38UCSC Ensembl
Innerchr5:172098395..172157395hg19UCSC Ensembl
Innerchr5:172031000..172090000hg18UCSC Ensembl
Innerchr5:172031000..172090000hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3859001
hg1959001
hg1859001
hg1759001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35050
Supporting Variants
SamplesNA19137
Known GenesNEURL1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980853
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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