A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743057



Internal ID9977341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31332666..31333006hg38UCSC Ensembl
Outerchr17:29659684..29660024hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941076
SamplesSSM022
Known GenesNF1
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)esv2743057
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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