A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745783



Internal ID5056515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40641120..40641573hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6741075, essv6677827, essv6936138, essv6760975, essv6713002, essv6755555
SamplesSSM061, SSM042, SSM032, SSM021, SSM052, SSM058
Known GenesLRRK2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745783
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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