A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6788472



Internal ID10192542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28453387..28456461hg38UCSC Ensembl
Outerchr17:26780405..26783479hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383075
hg193075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715790
Supporting Variants
SamplesSSM069
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)essv6788472
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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