A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985993



Internal ID12984346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:22469723..22567105hg38UCSC Ensembl
Innerchr5:22469832..22567214hg19UCSC Ensembl
Innerchr5:22505589..22602971hg18UCSC Ensembl
Innerchr5:22505589..22602971hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3897383
hg1997383
hg1897383
hg1797383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752064
Supporting Variants
SamplesSPC_99
Known GenesCDH12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985993
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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