A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716085



Internal ID9950372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59879662..59879962hg38UCSC Ensembl
Outerchr17:57957023..57957323hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804003
SamplesSSM073
Known GenesTUBD1
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)esv2716085
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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