A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5748306



Internal ID8848053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:129174437..129179043hg38UCSC Ensembl
Outerchr9:129174066..129179413hg38UCSC Ensembl
Innerchr9:131936716..131941322hg19UCSC Ensembl
Outerchr9:131936345..131941692hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg385348
hg195348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675916
Supporting Variants
SamplesHG00284
Known GenesIER5L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5748306
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