A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15355218



Internal ID3480082
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637570
Supporting Variants
SamplesHG03095
Known GenesAXIN1, MRPL28, TMEM8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15355218
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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