A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745783



Internal ID3293735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40247318..40247771hg38UCSC Ensembl
Outerchr12:40641120..40641573hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38454
hg19454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741075, essv6677827, essv6936138, essv6760975, essv6713002, essv6755555
SamplesSSM061, SSM042, SSM032, SSM021, SSM052, SSM058
Known GenesLRRK2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
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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