A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6691103



Internal ID10104197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115476018..115476316hg38UCSC Ensembl
Outerchr8:116488245..116488543hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737465, esv2737464
Supporting Variants
SamplesSSM036
Known GenesTRPS1
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)essv6691103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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