A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326490



Internal ID14826770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116951488..116951488hg38UCSC Ensembl
Innerchr8:116951487..116951489hg38UCSC Ensembl
Outerchr8:116951438..116951538hg38UCSC Ensembl
chr8:117963727..117963727hg19UCSC Ensembl
Innerchr8:117963726..117963728hg19UCSC Ensembl
Outerchr8:117963677..117963777hg19UCSC Ensembl
chr8:118032908..118032908hg18UCSC Ensembl
Innerchr8:118032909..118032907hg18UCSC Ensembl
Outerchr8:118032858..118032958hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38150
hg19150
hg18150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701514
SamplesNA12878
Known GenesSLC30A8
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326490
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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