A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717445



Internal ID9951736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77343055..77343732hg38UCSC Ensembl
Outerchr18:75055011..75055688hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6741761, essv6753162, essv6871337
SamplesSSM057, SSM090, SSM052
Known Genes
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)esv2717445
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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