A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604682



Internal ID6991710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34575888..34661785hg38UCSC Ensembl
chr5:34575993..34661890hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3885898
hg1985898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1090e214
Supporting Variantsessv11865833, essv11865834, essv11865835
SamplesNA12717, NA19468, NA20289
Known GenesRAI14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604682
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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