A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380570



Internal ID15227542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142185387..142185984hg38UCSC Ensembl
Innerchr8:142185387..142185984hg38UCSC Ensembl
Outerchr8:142185228..142186605hg38UCSC Ensembl
chr8:143266748..143267345hg19UCSC Ensembl
Innerchr8:143266748..143267345hg19UCSC Ensembl
Outerchr8:143266589..143267966hg19UCSC Ensembl
chr8:143264655..143265252hg18UCSC Ensembl
Innerchr8:143264655..143265252hg18UCSC Ensembl
Outerchr8:143264496..143265873hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38598
hg19598
hg18598
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652394
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380570
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer