A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658301



Internal ID9924406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21163885..21164558hg38UCSC Ensembl
chr6:21164116..21164789hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38674
hg19674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5901114, essv6124117
SamplesNA18520, NA20289
Known GenesCDKAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658301
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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