A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2764n54



Internal ID22770659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:85125468..85181250hg38UCSC Ensembl
chr12:85519246..85575028hg19UCSC Ensembl
chr12:84043377..84099159hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3855783
hg1955783
hg1855783
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559659, nsv559657, nsv559656
Samples
Known GenesLRRIQ1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2764n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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