A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16345318



Internal ID6392230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46117217..46122216hg38UCSC Ensembl
chr21:47537131..47542130hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647161
Supporting Variants
SamplesNA20339
Known GenesCOL6A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16345318
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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