A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980851



Internal ID12635479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172656276..172752261hg38UCSC Ensembl
Innerchr5:172083279..172179264hg19UCSC Ensembl
Innerchr5:172015884..172111869hg18UCSC Ensembl
Innerchr5:172015884..172111869hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3895986
hg1995986
hg1895986
hg1795986
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)essv6980851
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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