A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646485



Internal ID7033229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17743183..17747848hg38UCSC Ensembl
Innerchr21:17743198..17747834hg38UCSC Ensembl
Outerchr21:17743169..17747863hg38UCSC Ensembl
chr21:19115500..19120165hg19UCSC Ensembl
Innerchr21:19115515..19120151hg19UCSC Ensembl
Outerchr21:19115486..19120180hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg384666
hg194666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16273892, essv16273891
SamplesHG02688, NA19146
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646485
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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