A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3129n54



Internal ID20136553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42767972..43316240hg38UCSC Ensembl
chr13:43342108..43890376hg19UCSC Ensembl
chr13:42240108..42788376hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38548269
hg19548269
hg18548269
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561554, nsv561553, nsv561556
Samples
Known GenesDNAJC15, ENOX1, EPSTI1, FAM216B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3129n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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