A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981182



Internal ID12626263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28951..234874hg38UCSC Ensembl
Innerchr5:28949..234989hg19UCSC Ensembl
Innerchr5:81949..287989hg18UCSC Ensembl
Innerchr5:81949..287989hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38205924
hg19206041
hg18206041
hg17206041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752083
Supporting Variants
SamplesBEC_361
Known GenesCCDC127, LRRC14B, PLEKHG4B, SDHA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981182
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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