A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16163732



Internal ID6165548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23425607..23597079hg38UCSC Ensembl
chr20:23406244..23577716hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38171473
hg19171473
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645525
Supporting Variants
SamplesHG03295
Known GenesCST11, CST13P, CST8, CST9L, CSTL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16163732
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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