A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731359



Internal ID9965676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:601018..601418hg38UCSC Ensembl
Outerchr6:601018..601418hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6934589
SamplesSSM021
Known GenesEXOC2
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)esv2731359
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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