A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982322



Internal ID12626873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75570097..75714282hg38UCSC Ensembl
Innerchr13:76144233..76288418hg19UCSC Ensembl
Innerchr13:75042234..75186419hg18UCSC Ensembl
Innerchr13:75042234..75186419hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38144186
hg19144186
hg18144186
hg17144186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751152
Supporting Variants
SamplesBEC_416
Known GenesLMO7, UCHL3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982322
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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