A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1242e201



Internal ID20126129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144531049..144532001hg38UCSC Ensembl
chr8:145756433..145757385hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38953
hg19953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2738070, esv2738068
SamplesSSM027, SSM053, SSM086, SSM036, SSM078, SSM089, SSM031, SSM001, SSM032, SSM029, SSM095, SSM047, SSM087, SSM068, SSM026
Known GenesARHGAP39
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)dgv1242e201
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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