A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868045



Internal ID9918035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77487651..77487722hg38UCSC Ensembl
Outerchr17:75483733..75483804hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716281, esv2716280
Supporting Variants
SamplesSSM089
Known GenesSEPT9
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)essv6868045
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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