A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716968



Internal ID9951257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37392937..37393183hg38UCSC Ensembl
Outerchr18:34972900..34973146hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792688
SamplesSSM070
Known GenesCELF4
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)esv2716968
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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