A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944256



Internal ID10052851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115476017..115476315hg38UCSC Ensembl
Outerchr8:116488244..116488542hg19UCSC 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
SamplesSSM023
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)essv6944256
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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