A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342559



Internal ID14842827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40607975..40607987hg38UCSC Ensembl
Innerchr8:40607977..40607985hg38UCSC Ensembl
Outerchr8:40607973..40607989hg38UCSC Ensembl
chr8:40465494..40465506hg19UCSC Ensembl
Innerchr8:40465496..40465504hg19UCSC Ensembl
Outerchr8:40465492..40465508hg19UCSC Ensembl
chr8:40584651..40584663hg18UCSC Ensembl
Innerchr8:40584653..40584661hg18UCSC Ensembl
Outerchr8:40584649..40584665hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864838
SamplesNA12005
Known GenesZMAT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342559
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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