A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6933708



Internal ID9641554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25469537..25469920hg38UCSC Ensembl
Outerchr8:25327053..25327436hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736777
Supporting Variants
SamplesSSM003
Known GenesCDCA2
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)essv6933708
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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