A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988212



Internal ID12980501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:66657373..66751654hg38UCSC Ensembl
Innerchr13:67231505..67325786hg19UCSC Ensembl
Innerchr13:66129506..66223787hg18UCSC Ensembl
Innerchr13:66129506..66223787hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3894282
hg1994282
hg1894282
hg1794282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34348
Supporting Variants
SamplesNA18592
Known GenesPCDH9
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988212
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