A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716972



Internal ID9951261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:37490994..37491454hg38UCSC Ensembl
Outerchr18:35070957..35071417hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6796869
SamplesSSM071
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)esv2716972
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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