A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv466e201



Internal ID22759824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:75165728..75165865hg38UCSC Ensembl
chr18:72877683..72877820hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717372, esv2717375
SamplesSSM027, SSM089
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)dgv466e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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