A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16329046



Internal ID2952304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43857387..43861133hg38UCSC Ensembl
Innerchr21:43857537..43860983hg38UCSC Ensembl
Outerchr21:43857237..43861283hg38UCSC Ensembl
chr21:45277268..45281014hg19UCSC Ensembl
Innerchr21:45277418..45280864hg19UCSC Ensembl
Outerchr21:45277118..45281164hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383747
hg193747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647116
Supporting Variants
SamplesHG02610
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16329046
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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