A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658286



Internal ID9924391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33652036..33653059hg38UCSC Ensembl
chr21:35024342..35025365hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6254464, essv6056394, essv6156001, essv5831358
SamplesNA19399, NA19445, NA19453, NA20322
Known GenesITSN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658286
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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