A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750170



Internal ID3298122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:100981898..100982386hg38UCSC Ensembl
Outerchr15:101522103..101522591hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6806724, essv6717250, essv6724919, essv6846301, essv6879807
SamplesSSM043, SSM045, SSM093, SSM085, SSM074
Known GenesLRRK1
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)esv2750170
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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