A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716148



Internal ID9950435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68552646..68552990hg38UCSC Ensembl
Outerchr17:66548787..66549131hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6816057, essv6691966, essv6879997, essv6725205, essv6713635, essv6678534, essv6820496, essv6868028
SamplesSSM045, SSM093, SSM042, SSM089, SSM032, SSM078, SSM005, SSM077
Known GenesFAM20A
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)esv2716148
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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