A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934007



Internal ID9641581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72875534..72881509hg38UCSC Ensembl
Outerchr8:73787769..73793744hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg385976
hg195976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737154, esv2737160
Supporting Variants
SamplesSSM003
Known GenesKCNB2
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)essv6934007
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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