A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398273



Internal ID15245236
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 StatusM
Merged Variants
Supporting Variantsessv8942667, essv8942671, essv8942668, essv8942672
SamplesNA18507, NA19099, NA18909, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398273
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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