A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2491n54



Internal ID20135915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32178735..32182257hg38UCSC Ensembl
chr12:32331669..32335191hg19UCSC Ensembl
chr12:32222936..32226458hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383523
hg193523
hg183523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558177, nsv558183, nsv558181, nsv558178, nsv558184, nsv558185, nsv558182, nsv558187, nsv558186
Samples
Known GenesBICD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2491n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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