A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6668542



Internal ID10083842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31771543..31772048hg38UCSC Ensembl
Outerchr17:30098562..30099067hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715824
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)essv6668542
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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