A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv471e201



Internal ID20125358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77978572..77978823hg38UCSC Ensembl
chr18:75690528..75690779hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717490, esv2717491
SamplesSSM024, SSM087, SSM039, SSM057, SSM031, SSM068, SSM037, SSM095
Known GenesLINC01029
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)dgv471e201
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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