A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717016



Internal ID10300652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43631141..43631270hg38UCSC Ensembl
Outerchr18:41211106..41211235hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852456
SamplesSSM086
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)esv2717016
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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