A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677002



Internal ID13703761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128695760..128695792hg38UCSC Ensembl
Innerchr8:128695772..128695778hg38UCSC Ensembl
Outerchr8:128695746..128695806hg38UCSC Ensembl
chr8:129708006..129708038hg19UCSC Ensembl
Innerchr8:129708018..129708024hg19UCSC Ensembl
Outerchr8:129707992..129708052hg19UCSC Ensembl
chr8:129777188..129777220hg18UCSC Ensembl
Innerchr8:129777200..129777206hg18UCSC Ensembl
Outerchr8:129777174..129777234hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3410295
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677002
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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