A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652394



Internal ID15103377
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 StatusS
Merged Variantsesv3380570
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652394
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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