A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16271475



Internal ID1555295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:16868636..17001669hg38UCSC Ensembl
chr21:18240956..18373989hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38133034
hg19133034
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646465
Supporting Variants
SamplesHG01438
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16271475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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