A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6969459



Internal ID9728967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131482140..131482381hg38UCSC Ensembl
Outerchr6:131803280..131803521hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732708
Supporting Variants
SamplesSSM028
Known Genes
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)essv6969459
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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