A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637570



Internal ID7024362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:320893..377048hg38UCSC Ensembl
chr16:370893..427048hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856156
hg1956156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15355218
SamplesHG03095
Known GenesAXIN1, MRPL28, TMEM8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637570
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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