A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5865568



Internal ID8842971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:131907325..131908219hg38UCSC Ensembl
Outerchr8:131907288..131908269hg38UCSC Ensembl
Innerchr8:132919572..132920466hg19UCSC Ensembl
Outerchr8:132919535..132920516hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38982
hg19982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657891
Supporting Variants
SamplesNA19779
Known GenesEFR3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5865568
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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