A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854643



Internal ID9664366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:8227714..8227994hg38UCSC Ensembl
Outerchr6:8227947..8228227hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731545, esv2731544
Supporting Variants
SamplesSSM011
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)essv6854643
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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