A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8942672



Internal ID14424988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125860676..125860712hg38UCSC Ensembl
Innerchr8:125860689..125860697hg38UCSC Ensembl
Outerchr8:125860655..125860733hg38UCSC Ensembl
chr8:126872920..126872956hg19UCSC Ensembl
Innerchr8:126872933..126872941hg19UCSC Ensembl
Outerchr8:126872899..126872977hg19UCSC Ensembl
chr8:126942102..126942138hg18UCSC Ensembl
Innerchr8:126942123..126942115hg18UCSC Ensembl
Outerchr8:126942081..126942159hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398273
Supporting Variants
SamplesNA18909
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8942672
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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