A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604851



Internal ID6645101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41591779..41992753hg38UCSC Ensembl
chr5:41591881..41992855hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38400975
hg19400975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882070
SamplesNA12717
Known GenesC5orf51, FBXO4, OXCT1, OXCT1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604851
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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