A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv454e201



Internal ID22759812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48730124..48731000hg38UCSC Ensembl
chr18:46256495..46257371hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38877
hg19877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717066, esv2717068
SamplesSSM008, SSM027, SSM075, SSM079, SSM065, SSM009, SSM073, SSM088, SSM028, SSM084, SSM021, SSM047, SSM029, SSM067, SSM033, SSM066, SSM006, SSM068, SSM095, SSM025, SSM043, SSM052, SSM012
Known GenesCTIF
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)dgv454e201
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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