A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800454



Internal ID9658944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6933385..6940673hg38UCSC Ensembl
Outerchr8:6790907..6798195hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg387289
hg197289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736548, esv2736546
Supporting Variants
SamplesSSM009
Known GenesDEFA4
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)essv6800454
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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