A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789620



Internal ID19173593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:61068524..61946715hg38UCSC Ensembl
Innerchr13:61642658..62520848hg19UCSC Ensembl
Innerchr13:60540659..61418849hg18UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38878192
hg19878191
hg18878191
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892365
Supporting Variants
Samples
Known GenesMIR3169, MIR548AN, PCDH20
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=190
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789620
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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