A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988154



Internal ID12633312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20399229..20542402hg38UCSC Ensembl
Innerchr13:20973368..21116541hg19UCSC Ensembl
Innerchr13:19871368..20014541hg18UCSC Ensembl
Innerchr13:19871368..20014541hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38143174
hg19143174
hg18143174
hg17143174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34984
Supporting Variants
SamplesNA18529
Known GenesCRYL1, MIR4499
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988154
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