A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604684



Internal ID6644934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34661786..34882578hg38UCSC Ensembl
chr5:34661891..34882683hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38220793
hg19220793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11865960
SamplesNA12717
Known GenesRAI14, TTC23L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604684
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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