A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647162



Internal ID7033903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46130545..46143242hg38UCSC Ensembl
chr21:47550459..47563156hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3812698
hg1912698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16345326, essv16345327
SamplesHG03241, NA19438
Known GenesCOL6A2, FTCD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647162
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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