A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7740427



Internal ID14570491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127195803..127195804hg38UCSC Ensembl
Innerchr8:127195771..127195836hg38UCSC Ensembl
Outerchr8:127195770..127195837hg38UCSC Ensembl
chr8:128208048..128208049hg19UCSC Ensembl
Innerchr8:128208016..128208081hg19UCSC Ensembl
Outerchr8:128208015..128208082hg19UCSC Ensembl
chr8:128277230..128277231hg18UCSC Ensembl
Innerchr8:128277263..128277198hg18UCSC Ensembl
Outerchr8:128277197..128277264hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303525
Supporting Variants
SamplesNA18951
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7740427
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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