A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15566721



Internal ID5568537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88756174..88768749hg38UCSC Ensembl
chr16:88822582..88835157hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3812576
hg1912576
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639556
Supporting Variants
SamplesHG02476
Known GenesPIEZO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15566721
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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