A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9837n54



Internal ID19002013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69538215..69565703hg38UCSC Ensembl
chr5:68834042..68861530hg19UCSC Ensembl
chr5:68869798..68897286hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3827489
hg1927489
hg1827489
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598444, nsv598440
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)dgv9837n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer