A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964775



Internal ID9724943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:73975883..73976319hg38UCSC Ensembl
Outerchr8:74888118..74888554hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38437
hg19437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737174
Supporting Variants
SamplesSSM027
Known GenesTMEM70
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)essv6964775
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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