A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6904574



Internal ID9669515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3115090..3115663hg38UCSC Ensembl
Outerchr10:3157282..3157855hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38574
hg19574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731184, esv2731228, esv2730995, esv2731206
Supporting Variants
SamplesSSM013
Known GenesPFKP
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)essv6904574
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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