A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667471



Internal ID9933576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158546972..158551953hg38UCSC Ensembl
chr1:158516762..158521743hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg384982
hg194982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6372432, essv6540360, essv5588393, essv5398761, essv5720492, essv6458119, essv5915342, essv6446899, essv6335912, essv5611148, essv6045031
SamplesNA19397, NA19350, NA18870, NA19374, NA19385, NA19469, NA19401, NA19473, NA19360, NA19102, NA19429
Known GenesOR6Y1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667471
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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