A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659867



Internal ID9925972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:42007869..42011613hg38UCSC Ensembl
Outerchr8:42007832..42011663hg38UCSC Ensembl
Innerchr8:41865387..41869131hg19UCSC Ensembl
Outerchr8:41865350..41869181hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg383832
hg193832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6513782
SamplesHG01072
Known GenesKAT6A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659867
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