A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv474e201



Internal ID20125361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78430702..78431189hg38UCSC Ensembl
chr18:76190702..76191189hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717525, esv2717527
SamplesSSM071, SSM011, SSM084, SSM089, SSM003, SSM067, SSM081, SSM082, SSM020, SSM016, SSM080, SSM022
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)dgv474e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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