A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716056



Internal ID9950343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:55396714..55397250hg38UCSC Ensembl
Outerchr17:53474075..53474611hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769046
SamplesSSM064
Known GenesMMD
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)esv2716056
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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