A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9839n54



Internal ID19002015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69543896..69561058hg38UCSC Ensembl
chr5:68839723..68856885hg19UCSC Ensembl
chr5:68875479..68892641hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817163
hg1917163
hg1817163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598453, nsv598455
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, OCLN, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9839n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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