A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750171



Internal ID3298123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:101052197..101052645hg38UCSC Ensembl
Outerchr15:101592402..101592850hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862951, essv6874018, essv6803818, essv6724921
SamplesSSM091, SSM088, SSM045, SSM073
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)esv2750171
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer