A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv464e201



Internal ID22759822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75104708..75105030hg38UCSC Ensembl
chr18:72816664..72816986hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717364, esv2717366
SamplesSSM045, SSM079, SSM042, SSM023, SSM032, SSM085, SSM020, SSM034, SSM099
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)dgv464e201
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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