A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327815



Internal ID15174799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42784681..42784692hg38UCSC Ensembl
Innerchr8:42784660..42784713hg38UCSC Ensembl
Outerchr8:42784649..42784724hg38UCSC Ensembl
chr8:42639824..42639835hg19UCSC Ensembl
Innerchr8:42639803..42639856hg19UCSC Ensembl
Outerchr8:42639792..42639867hg19UCSC Ensembl
chr8:42758981..42758992hg18UCSC Ensembl
Innerchr8:42759013..42758960hg18UCSC Ensembl
Outerchr8:42758949..42759024hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864840
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327815
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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