A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9734n54



Internal ID20143158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42628901..42630866hg38UCSC Ensembl
chr5:42629003..42630968hg19UCSC Ensembl
chr5:42664760..42666725hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg381966
hg191966
hg181966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv597899, nsv597902, nsv597906, nsv597903, nsv597898, nsv597905, nsv597901, nsv597897, nsv597896, nsv597900
Samples
Known GenesGHR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9734n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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