A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647020



Internal ID6687076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39531228..39615172hg38UCSC Ensembl
chr21:40903155..40987099hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3883945
hg1983945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16320964
SamplesNA12156
Known GenesB3GALT5, C21orf88
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647020
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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