A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360583



Internal ID15207562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49868459..49868901hg38UCSC Ensembl
Innerchr8:49868652..49868708hg38UCSC Ensembl
Outerchr8:49868266..49869094hg38UCSC Ensembl
chr8:50781019..50781461hg19UCSC Ensembl
Innerchr8:50781212..50781268hg19UCSC Ensembl
Outerchr8:50780826..50781654hg19UCSC Ensembl
chr8:50943572..50944014hg18UCSC Ensembl
Innerchr8:50943765..50943821hg18UCSC Ensembl
Outerchr8:50943379..50944207hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38443
hg19443
hg18443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8671503, essv8671504
SamplesNA19238, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360583
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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