A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16268886



Internal ID6468229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16353153..16361990hg38UCSC Ensembl
Innerchr21:16353653..16361490hg38UCSC Ensembl
Outerchr21:16352153..16362990hg38UCSC Ensembl
chr21:17725474..17734311hg19UCSC Ensembl
Innerchr21:17725974..17733811hg19UCSC Ensembl
Outerchr21:17724474..17735311hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg388838
hg198838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646455
Supporting Variants
SamplesNA20519
Known GenesLINC00478
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16268886
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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