A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674544



Internal ID9940649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126145286..126149743hg38UCSC Ensembl
Outerchr9:126145129..126149896hg38UCSC Ensembl
Innerchr9:128907565..128912022hg19UCSC Ensembl
Outerchr9:128907408..128912175hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg384768
hg194768
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5887976, essv5575426
SamplesHG00583, HG00619
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674544
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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