A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv450e201



Internal ID20125337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:11805162..11805356hg38UCSC Ensembl
chr18:11805161..11805355hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2716802, esv2716800
SamplesSSM024, SSM031, SSM067, SSM020, SSM070
Known GenesGNAL
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)dgv450e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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