A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv470e201



Internal ID20125357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77969384..77970468hg38UCSC Ensembl
chr18:75681340..75682424hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381085
hg191085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717484, esv2717486
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM064, SSM013, SSM073, SSM023, SSM028, SSM021, SSM047, SSM029, SSM089, SSM017, SSM001, SSM014, SSM086, SSM072, SSM020, SSM015, SSM080, SSM037, SSM077, SSM022
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)dgv470e201
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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