A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736771



Internal ID9971103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:25216220..25216304hg38UCSC Ensembl
Outerchr8:25073736..25073820hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975920
SamplesSSM029
Known GenesDOCK5
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)esv2736771
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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