A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696139



Internal ID14709862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123190931..123193629hg38UCSC Ensembl
Innerchr8:123191931..123192629hg38UCSC Ensembl
Outerchr8:123189931..123194629hg38UCSC Ensembl
chr8:124203171..124205869hg19UCSC Ensembl
Innerchr8:124204171..124204869hg19UCSC Ensembl
Outerchr8:124202171..124206869hg19UCSC Ensembl
chr8:124272352..124275050hg18UCSC Ensembl
Innerchr8:124273352..124274050hg18UCSC Ensembl
Outerchr8:124271352..124276050hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382699
hg192699
hg182699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3412283
Supporting Variants
SamplesNA19239
Known GenesFAM83A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696139
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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