A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978453



Internal ID12635309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172663880..172735813hg38UCSC Ensembl
Innerchr5:172090883..172162816hg19UCSC Ensembl
Innerchr5:172023488..172095421hg18UCSC Ensembl
Innerchr5:172023488..172095421hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3871934
hg1971934
hg1871934
hg1771934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34432
Supporting Variants
SamplesNA19100
Known GenesNEURL1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978453
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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