A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2650n54



Internal ID22770545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:57200111..57205251hg38UCSC Ensembl
chr12:57593894..57599034hg19UCSC Ensembl
chr12:55880161..55885301hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385141
hg195141
hg185141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559029, nsv559024, nsv559027, nsv559025, nsv559026
Samples
Known GenesLRP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2650n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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