A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16310577



Internal ID2242685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30522007..30536414hg38UCSC Ensembl
Innerchr21:30522007..30536414hg38UCSC Ensembl
Outerchr21:30521507..30536914hg38UCSC Ensembl
chr21:31894325..31908733hg19UCSC Ensembl
Innerchr21:31894325..31908733hg19UCSC Ensembl
Outerchr21:31893825..31909233hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3814408
hg1914409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646833
Supporting Variants
SamplesHG02012
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16310577
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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