A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681100



Internal ID9750601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144278941..144279370hg38UCSC Ensembl
Outerchr8:145502974..145503403hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738057
Supporting Variants
SamplesSSM033
Known GenesBOP1
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)essv6681100
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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