A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585565



Internal ID6625882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27879549..27935475hg38UCSC Ensembl
chr1:28206060..28261986hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3855927
hg1955927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894554
SamplesNA18610
Known GenesRPA2, SMPDL3B, THEMIS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585565
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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