A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv475e201



Internal ID20125362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78508313..78508608hg38UCSC Ensembl
chr18:76268313..76268608hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717548, esv2717547
SamplesSSM100, SSM083, SSM046, SSM097, SSM021, SSM026, SSM094, SSM068, SSM082, SSM080, SSM010
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)dgv475e201
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer