A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659563



Internal ID9925668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55476844..55480858hg38UCSC Ensembl
chr6:55341642..55345656hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg384015
hg194015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6413933, essv5551754, essv6499177, essv6360728, essv5622219, essv5720653, essv5449715, essv6107286, essv5834719, essv5485301, essv6275381, essv6472599
SamplesNA18504, NA18870, NA19372, NA19371, NA19317, NA19189, NA19347, NA19473, NA19835, NA19428, NA19360, NA19398
Known GenesHMGCLL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659563
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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