A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9641492



Internal ID13370435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127344408..127344427hg38UCSC Ensembl
Innerchr8:127344404..127344431hg38UCSC Ensembl
Outerchr8:127344385..127344450hg38UCSC Ensembl
chr8:128356654..128356673hg19UCSC Ensembl
Innerchr8:128356650..128356677hg19UCSC Ensembl
Outerchr8:128356631..128356696hg19UCSC Ensembl
chr8:128425836..128425855hg18UCSC Ensembl
Innerchr8:128425859..128425832hg18UCSC Ensembl
Outerchr8:128425813..128425878hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395895
Supporting Variants
SamplesNA12045
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9641492
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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