A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741075



Internal ID9802138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40247318..40247759hg38UCSC Ensembl
Outerchr12:40641120..40641561hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745782, esv2745783
Supporting Variants
SamplesSSM052
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)essv6741075
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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