A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604874



Internal ID6645124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42627983..42758005hg38UCSC Ensembl
chr5:42628085..42758107hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38130023
hg19130023
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882423
SamplesNA12717
Known GenesCCDC152, GHR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604874
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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