A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717431



Internal ID9951722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:77115817..77116257hg38UCSC Ensembl
Outerchr18:74827773..74828213hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888661, essv6717663, essv6863374
SamplesSSM088, SSM096, SSM043
Known GenesMBP
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)esv2717431
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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