A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694950



Internal ID9760811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141469414..141469600hg38UCSC Ensembl
Outerchr8:142479514..142479700hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737787, esv2737756, esv2737788
Supporting Variants
SamplesSSM037
Known GenesMROH5
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)essv6694950
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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