A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986620



Internal ID12635316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172656392..172736392hg38UCSC Ensembl
Innerchr5:172083395..172163395hg19UCSC Ensembl
Innerchr5:172016000..172096000hg18UCSC Ensembl
Innerchr5:172016000..172096000hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3880001
hg1980001
hg1880001
hg1780001
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986620
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer