A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717398



Internal ID9951688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:76423593..76424625hg38UCSC Ensembl
Outerchr18:74135549..74136581hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381033
hg191033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv469e201
Supporting Variantsessv6696459, essv6945919, essv6868162, essv6895395, essv6895394, essv6868163, essv6852522
SamplesSSM023, SSM089, SSM086, SSM037, SSM098
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)esv2717398
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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