A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734410



Internal ID9998444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143742279..143745837hg38UCSC Ensembl
Outerchr8:144824449..144828007hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383559
hg193559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738037
Supporting Variants
SamplesSSM007
Known GenesFAM83H-AS1
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)essv6734410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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