A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1574n54



Internal ID20134998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2848935..2889391hg38UCSC Ensembl
chr11:2870165..2910621hg19UCSC Ensembl
chr11:2826741..2867197hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3840457
hg1940457
hg1840457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv553113, nsv553112
Samples
Known GenesCDKN1C, KCNQ1, KCNQ1DN, SLC22A18AS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1574n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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