A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv469e201



Internal ID20125356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:76423455..76424625hg38UCSC Ensembl
chr18:74135411..74136581hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381171
hg191171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717400, esv2717398, esv2717395
SamplesSSM045, SSM023, SSM069, SSM089, SSM031, SSM044, SSM086, SSM037, SSM070, SSM098
Known GenesZNF516
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)dgv469e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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