A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604840



Internal ID6645090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41261866..41446947hg38UCSC Ensembl
chr5:41261968..41447049hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38185082
hg19185082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11879620, essv11879621
SamplesNA12717, NA19038
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604840
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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