A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820536



Internal ID10220088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82764827..82765172hg38UCSC Ensembl
Outerchr17:80722703..80723048hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716526, esv2716532, esv2716528, esv2716535, esv2716534, esv2716531
Supporting Variants
SamplesSSM078
Known GenesTBCD
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)essv6820536
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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