A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16299916



Internal ID4227910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:26145546..26150110hg38UCSC Ensembl
Innerchr21:26145696..26149960hg38UCSC Ensembl
Outerchr21:26145396..26150260hg38UCSC Ensembl
chr21:27517864..27522428hg19UCSC Ensembl
Innerchr21:27518014..27522278hg19UCSC Ensembl
Outerchr21:27517714..27522578hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg384565
hg194565
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646728
Supporting Variants
SamplesHG03803
Known GenesAPP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16299916
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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