A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658330



Internal ID9577749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38539669..38545155hg38UCSC Ensembl
chr21:39911593..39917079hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385487
hg195487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6269987, essv5746044
SamplesNA12003, NA07000
Known GenesERG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658330
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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