A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741776



Internal ID9976069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79720295..79720433hg38UCSC Ensembl
Outerchr18:77480295..77480433hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784474
SamplesSSM068
Known GenesCTDP1
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)esv2741776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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