A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16111535



Internal ID6113351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1509522..1569123hg38UCSC Ensembl
chr20:1490168..1549769hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3859602
hg1959602
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644980
Supporting Variants
SamplesHG02597
Known GenesSIRPB1, SIRPD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16111535
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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