A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2783n54



Internal ID22770678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90798358..90853425hg38UCSC Ensembl
chr12:91192135..91247202hg19UCSC Ensembl
chr12:89716266..89771333hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3855068
hg1955068
hg1855068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559748, nsv559749
Samples1780862459_A, HGDP01030
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2783n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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