A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6850126



Internal ID10248595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17875529..17875590hg38UCSC Ensembl
Outerchr8:17733038..17733099hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736698, esv2736697
Supporting Variants
SamplesSSM086
Known GenesFGL1
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)essv6850126
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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