A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16276603



Internal ID4208297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:18561346..18569551hg38UCSC Ensembl
Innerchr21:18561346..18569551hg38UCSC Ensembl
Outerchr21:18561253..18569644hg38UCSC Ensembl
chr21:19933664..19941869hg19UCSC Ensembl
Innerchr21:19933664..19941869hg19UCSC Ensembl
Outerchr21:19933571..19941962hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg388206
hg198206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646499
Supporting Variants
SamplesHG03788
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16276603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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