A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3347673



Internal ID15194655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7567220..7569818hg38UCSC Ensembl
Innerchr8:7568220..7568818hg38UCSC Ensembl
Outerchr8:7566220..7570818hg38UCSC Ensembl
chr8:7424742..7427340hg19UCSC Ensembl
Innerchr8:7425742..7426340hg19UCSC Ensembl
Outerchr8:7423742..7428340hg19UCSC Ensembl
chr8:7412152..7414750hg18UCSC Ensembl
Innerchr8:7413152..7413750hg18UCSC Ensembl
Outerchr8:7411152..7415750hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696378
SamplesNA12878
Known GenesFAM90A7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3347673
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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