A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16320840



Internal ID6152760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39153410..39156741hg38UCSC Ensembl
Innerchr21:39153410..39156741hg38UCSC Ensembl
Outerchr21:39153294..39156873hg38UCSC Ensembl
chr21:40525336..40528667hg19UCSC Ensembl
Innerchr21:40525336..40528667hg19UCSC Ensembl
Outerchr21:40525220..40528799hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg383332
hg193332
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647015
Supporting Variants
SamplesNA19684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16320840
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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