A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670756



Internal ID9936861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143036535..143040599hg38UCSC Ensembl
chr8:144117952..144122016hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg384065
hg194065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5558380, essv6232295, essv6356752, essv5773151, essv5856003, essv5522189, essv6522191, essv6342318, essv5676896, essv6168445, essv5910191, essv5615041
SamplesNA19777, NA19920, NA18510, NA19319, NA18489, NA19313, NA19384, NA19383, NA19921, NA18910, NA19375, NA19474
Known GenesC8orf31
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670756
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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