A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663191



Internal ID9929296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94712939..94715996hg38UCSC Ensembl
chr8:95725167..95728224hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg383058
hg193058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5494384, essv5991209, essv6028268, essv5784919, essv6026482, essv5453349, essv6080767, essv5583183, essv5702701, essv5952597, essv6495792
SamplesNA11933, HG01488, HG01354, NA20759, HG00262, NA12889, HG00266, HG00265, NA12347, NA20758, NA07000
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663191
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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