A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984242



Internal ID12977932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116207285..116269501hg38UCSC Ensembl
Innerchr5:115542982..115605198hg19UCSC Ensembl
Innerchr5:115570881..115633097hg18UCSC Ensembl
Innerchr5:115570881..115633097hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3862217
hg1962217
hg1862217
hg1762217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752058
Supporting Variants
SamplesBEC_817
Known GenesCOMMD10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984242
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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