A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6257n54



Internal ID18998433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8390428..8391108hg38UCSC Ensembl
chr19:8455312..8455992hg19UCSC Ensembl
chr19:8361312..8361992hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38681
hg19681
hg18681
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578556, nsv578557
Samples
Known GenesRAB11B, RAB11B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6257n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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