A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3075n54



Internal ID20136499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:20398414..20521581hg38UCSC Ensembl
chr13:20972553..21095720hg19UCSC Ensembl
chr13:19870553..19993720hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38123168
hg19123168
hg18123168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv561241, nsv561242
SamplesHGDP00814, HGDP00821
Known GenesCRYL1, MIR4499
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv3075n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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