A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310355



Internal ID15157306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101752961..101752962hg38UCSC Ensembl
Innerchr8:101752945..101752978hg38UCSC Ensembl
Outerchr8:101752944..101752979hg38UCSC Ensembl
chr8:102765189..102765190hg19UCSC Ensembl
Innerchr8:102765173..102765206hg19UCSC Ensembl
Outerchr8:102765172..102765207hg19UCSC Ensembl
chr8:102834365..102834366hg18UCSC Ensembl
Innerchr8:102834382..102834349hg18UCSC Ensembl
Outerchr8:102834348..102834383hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842720, essv7841849
SamplesNA19238, NA19240
Known GenesNCALD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310355
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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