A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6943456



Internal ID9705330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52752102..52833446hg38UCSC Ensembl
Outerchr6:52616900..52698244hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg3881345
hg1981345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732085
Supporting Variants
SamplesSSM023
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)essv6943456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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