A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2787n54



Internal ID20136211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92735105..92897826hg38UCSC Ensembl
chr12:93128881..93291602hg19UCSC Ensembl
chr12:91653012..91815733hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38162722
hg19162722
hg18162722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559763, nsv559762
Samples1780854090_A
Known GenesEEA1, PLEKHG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2787n54
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