A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16297397



Internal ID2848297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:25808293..25875235hg38UCSC Ensembl
Innerchr21:25808328..25875200hg38UCSC Ensembl
Outerchr21:25808258..25875270hg38UCSC Ensembl
chr21:27180604..27247546hg19UCSC Ensembl
Innerchr21:27180639..27247511hg19UCSC Ensembl
Outerchr21:27180569..27247581hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3866943
hg1966943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646720
Supporting Variants
SamplesHG02512
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16297397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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