A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607137



Internal ID6994072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149260394..149353282hg38UCSC Ensembl
chr5:148639957..148732845hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3892889
hg1992889
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12094481, essv12094482
SamplesNA21144, HG00707
Known GenesABLIM3, AFAP1L1, GRPEL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607137
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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