A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9833n54



Internal ID19002009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69531242..69622216hg38UCSC Ensembl
chr5:68827069..68918043hg19UCSC Ensembl
chr5:68862825..68953799hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3890975
hg1990975
hg1890975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598429, nsv598446, nsv598425, nsv598445
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)dgv9833n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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