A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737415



Internal ID10147156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17875347..17875791hg38UCSC Ensembl
Outerchr8:17732856..17733300hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736697
Supporting Variants
SamplesSSM050
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)essv6737415
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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