A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717148



Internal ID10300784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57293127..57293199hg38UCSC Ensembl
Outerchr18:54960358..54960430hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868136
SamplesSSM089
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)esv2717148
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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