A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606677



Internal ID6993612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126421280..126472388hg38UCSC Ensembl
chr5:125756972..125808080hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3851109
hg1951109
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12050692
SamplesNA20758
Known GenesGRAMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606677
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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