A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16319563



Internal ID3299670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36431084..36432249hg38UCSC Ensembl
Innerchr21:36431084..36432249hg38UCSC Ensembl
Outerchr21:36431007..36432272hg38UCSC Ensembl
chr21:37803382..37804547hg19UCSC Ensembl
Innerchr21:37803382..37804547hg19UCSC Ensembl
Outerchr21:37803305..37804570hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646970
Supporting Variants
SamplesHG02941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16319563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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