A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16266417



Internal ID6876981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14883524..14890865hg38UCSC Ensembl
Innerchr21:14883524..14890865hg38UCSC Ensembl
Outerchr21:14883024..14891365hg38UCSC Ensembl
chr21:16255845..16263186hg19UCSC Ensembl
Innerchr21:16255845..16263186hg19UCSC Ensembl
Outerchr21:16255345..16263686hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg387342
hg197342
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646437
Supporting Variants
SamplesNA21099
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16266417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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