A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16296830



Internal ID6003179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:25421996..25453861hg38UCSC Ensembl
Innerchr21:25421996..25453861hg38UCSC Ensembl
Outerchr21:25421496..25454361hg38UCSC Ensembl
chr21:26794308..26826173hg19UCSC Ensembl
Innerchr21:26794308..26826173hg19UCSC Ensembl
Outerchr21:26793808..26826673hg19UCSC Ensembl
Cytoband21q21.2
Allele length
AssemblyAllele length
hg3831866
hg1931866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646708
Supporting Variants
SamplesNA19401
Known GenesLINC00158
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16296830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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