A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671877



Internal ID9591296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29763886..29766867hg38UCSC Ensembl
chr21:31136205..31139186hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg382982
hg192982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5565473, essv5405882
SamplesNA20816, NA19780
Known GenesGRIK1, GRIK1-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671877
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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