A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850104



Internal ID9901889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6933430..6933678hg38UCSC Ensembl
Outerchr8:6790952..6791200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736547, esv2736545, esv2736548, esv2736546, esv2736552, esv2736550, esv2736549
Supporting Variants
SamplesSSM086
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)essv6850104
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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