A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740017



Internal ID3290513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98720651..98728020hg38UCSC Ensembl
Outerchr10:100480408..100487777hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg387370
hg197370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709464
SamplesSSM006
Known GenesHPSE2
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)esv2740017
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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