A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717401



Internal ID9951691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76445956..76446087hg38UCSC Ensembl
Outerchr18:74157912..74158043hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949972
SamplesSSM024
Known GenesZNF516
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)esv2717401
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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