A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669249



Internal ID9935354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78633080..78636254hg38UCSC Ensembl
chr8:79545315..79548489hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg383175
hg193175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5585464, essv5700291, essv5620201, essv6123005, essv6396013, essv5850499, essv5537879, essv5641359, essv6247687, essv6329973, essv6195700, essv5544551
SamplesHG01188, NA19355, NA18510, HG01069, HG01067, NA19385, NA19114, NA19395, NA19102, NA18522, NA19429, HG01061
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669249
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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