A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676555



Internal ID9595974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:27406520..27408790hg38UCSC Ensembl
Outerchr8:27406363..27408943hg38UCSC Ensembl
Innerchr8:27264037..27266307hg19UCSC Ensembl
Outerchr8:27263880..27266460hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg382581
hg192581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6588241
SamplesNA12489
Known GenesPTK2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676555
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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