A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696379



Internal ID13730634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7567320..7571418hg38UCSC Ensembl
Innerchr8:7568320..7570418hg38UCSC Ensembl
Outerchr8:7566320..7572418hg38UCSC Ensembl
chr8:7424842..7428940hg19UCSC Ensembl
Innerchr8:7425842..7427940hg19UCSC Ensembl
Outerchr8:7423842..7429940hg19UCSC Ensembl
chr8:7412252..7416350hg18UCSC Ensembl
Innerchr8:7413252..7415350hg18UCSC Ensembl
Outerchr8:7411252..7417350hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3410467
Supporting Variants
SamplesNA12892
Known GenesFAM90A7P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696379
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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