A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11879620



Internal ID1881436
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604840
Supporting Variants
SamplesNA12717
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11879620
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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