A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv476e201



Internal ID20125363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78613692..78614430hg38UCSC Ensembl
chr18:76373692..76374430hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717558, esv2717557
SamplesSSM027, SSM065, SSM009, SSM073, SSM057, SSM028, SSM092, SSM084, SSM021, SSM018, SSM026, SSM017, SSM068, SSM081, SSM082, SSM015, SSM078, SSM010, SSM091, SSM043, SSM056
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)dgv476e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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