A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717393



Internal ID9951683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76392860..76394766hg38UCSC Ensembl
Outerchr18:74104816..74106722hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381907
hg191907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843326, essv6832108, essv6839449
SamplesSSM083, SSM084, SSM081
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)esv2717393
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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