A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694979



Internal ID10108223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144277791..144278019hg38UCSC Ensembl
Outerchr8:145501779..145502052hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38229
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738055
Supporting Variants
SamplesSSM037
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)essv6694979
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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