A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6740573



Internal ID9802588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:126179959..126182397hg38UCSC Ensembl
Outerchr8:127192203..127194641hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382439
hg192439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737556, esv2737545
Supporting Variants
SamplesSSM052
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)essv6740573
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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