A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985508



Internal ID12626246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112597..346521hg38UCSC Ensembl
Innerchr5:112712..346636hg19UCSC Ensembl
Innerchr5:165712..399636hg18UCSC Ensembl
Innerchr5:165712..399636hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38233925
hg19233925
hg18233925
hg17233925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752083
Supporting Variants
SamplesBEC_361
Known GenesAHRR, CCDC127, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985508
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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