A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607254



Internal ID6994188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:155058564..155144235hg38UCSC Ensembl
chr5:154438124..154523795hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3885672
hg1985672
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12105540, essv12105542, essv12105541
SamplesHG03268, NA18946, NA19063
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607254
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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