A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16345327



Internal ID6032008
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647162
Supporting Variants
SamplesNA19438
Known GenesCOL6A2, FTCD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16345327
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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