A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659568



Internal ID9925673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143215043..143216155hg38UCSC Ensembl
chr6:143536180..143537292hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381113
hg191113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5407445, essv5519098
SamplesNA19466, HG01108
Known GenesAIG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659568
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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