A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1226e201



Internal ID20126113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:141252401..141253054hg38UCSC Ensembl
chr8:142262500..142263153hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2737765, esv2737767
SamplesSSM083, SSM065, SSM032, SSM031, SSM086, SSM033, SSM085, SSM072, SSM005, SSM012
Known GenesSLC45A4
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)dgv1226e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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