A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604766



Internal ID6645016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38221565..38446015hg38UCSC Ensembl
chr5:38221667..38446117hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38224451
hg19224451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11871732, essv11871733
SamplesNA12717, NA19900
Known GenesEGFLAM, EGFLAM-AS2, EGFLAM-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604766
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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