A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668541



Internal ID9737155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30661415..30662116hg38UCSC Ensembl
Outerchr17:28988433..28989134hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715813, esv2715814
Supporting Variants
SamplesSSM030
Known Genes
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)essv6668541
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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