A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716322



Internal ID3266818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79004148..79004577hg38UCSC Ensembl
Outerchr17:77000230..77000659hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38430
hg19430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839362, essv6898163, essv6804016, essv6913018
SamplesSSM099, SSM083, SSM073, SSM002
Known GenesCANT1
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)esv2716322
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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