A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985994



Internal ID12984334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:22469734..22660434hg38UCSC Ensembl
Innerchr5:22469843..22660543hg19UCSC Ensembl
Innerchr5:22505600..22696300hg18UCSC Ensembl
Innerchr5:22505600..22696300hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38190701
hg19190701
hg18190701
hg17190701
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)essv6985994
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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