A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16322017



Internal ID3978275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41081564..41087622hg38UCSC Ensembl
Innerchr21:41081564..41087622hg38UCSC Ensembl
Outerchr21:41081400..41087811hg38UCSC Ensembl
chr21:42453491..42459549hg19UCSC Ensembl
Innerchr21:42453491..42459549hg19UCSC Ensembl
Outerchr21:42453327..42459738hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg386059
hg196059
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647054
Supporting Variants
SamplesHG03631
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16322017
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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