A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16154016



Internal ID6155832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:17565932..17576804hg38UCSC Ensembl
chr20:17546577..17557449hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3810873
hg1910873
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645426
Supporting Variants
SamplesNA19758
Known GenesBFSP1, DSTN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16154016
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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