A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1575n54



Internal ID20134999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2863338..2899436hg38UCSC Ensembl
chr11:2884568..2920666hg19UCSC Ensembl
chr11:2841144..2877242hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3836099
hg1936099
hg1836099
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv553114, nsv553115, nsv553116
SamplesNINDS_69
Known GenesCDKN1C, KCNQ1DN, SLC22A18AS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1575n54
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