A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6364828



Internal ID9662164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128063960..128069570hg38UCSC Ensembl
Outerchr2:128063923..128069620hg38UCSC Ensembl
Innerchr2:128821534..128827144hg19UCSC Ensembl
Outerchr2:128821497..128827194hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385698
hg195698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673867
Supporting Variants
SamplesNA19394
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6364828
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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