A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954009



Internal ID9711720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60249839..60249992hg38UCSC Ensembl
Outerchr17:58327200..58327353hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716088, esv2716087
Supporting Variants
SamplesSSM025
Known GenesUSP32
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)essv6954009
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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