A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792848



Internal ID18817723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:98843569..99243711hg38UCSC Ensembl
Innerchr13:99495823..99895965hg19UCSC Ensembl
Innerchr13:98293824..98693966hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38400143
hg19400143
hg18400143
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892433
Supporting Variants
Samples
Known GenesDOCK9, DOCK9-AS2, MIR548AN, UBAC2, UBAC2-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=69
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792848
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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