A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15767083



Internal ID5768899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82369046..82398572hg38UCSC Ensembl
chr17:80326922..80356448hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3829527
hg1929527
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641423
Supporting Variants
SamplesNA20519
Known GenesOGFOD3, UTS2R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15767083
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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