A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410295



Internal ID15257255
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 StatusM
Merged Variants
Supporting Variantsessv8677001, essv8677002
SamplesNA12891, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410295
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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