A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606795



Internal ID6993730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131604941..131638586hg38UCSC Ensembl
chr5:130940634..130974279hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3833646
hg1933646
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12064280, essv12064279
SamplesNA20317, NA20318
Known GenesRAPGEF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606795
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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