A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16309659



Internal ID6311475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29614511..29615395hg38UCSC Ensembl
Innerchr21:29614511..29615395hg38UCSC Ensembl
Outerchr21:29614150..29615732hg38UCSC Ensembl
chr21:30986831..30987715hg19UCSC Ensembl
Innerchr21:30986831..30987715hg19UCSC Ensembl
Outerchr21:30986470..30988052hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38885
hg19885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646802
Supporting Variants
SamplesNA19395
Known GenesGRIK1, GRIK1-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16309659
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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