A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646728



Internal ID7033471
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16299919, essv16299917, essv16299918, essv16299916
SamplesHG03803, HG04188, NA20906, NA20908
Known GenesAPP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646728
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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