A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604839



Internal ID6645089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41252837..41389962hg38UCSC Ensembl
chr5:41252939..41390064hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38137126
hg19137126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11879619
SamplesNA19038
Known GenesC6, PLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604839
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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