A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6705049



Internal ID9771339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52752097..52833449hg38UCSC Ensembl
Outerchr6:52616895..52698247hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3881353
hg1981353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732085
Supporting Variants
SamplesSSM040
Known GenesGSTA1, GSTA2, GSTA5
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)essv6705049
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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