A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732816



Internal ID10316452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:142862278..142862704hg38UCSC Ensembl
Outerchr6:143183415..143183841hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38427
hg19427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740070
SamplesSSM052
Known GenesHIVEP2
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)esv2732816
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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