A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647082



Internal ID6687138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42508862..42510604hg38UCSC Ensembl
Innerchr21:42508867..42510600hg38UCSC Ensembl
Outerchr21:42508858..42510609hg38UCSC Ensembl
chr21:43928972..43930714hg19UCSC Ensembl
Innerchr21:43928977..43930710hg19UCSC Ensembl
Outerchr21:43928968..43930719hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16324813
SamplesHG02573
Known GenesSLC37A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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