A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594659



Internal ID6634935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232576002..232623406hg38UCSC Ensembl
Innerchr2:232576152..232623256hg38UCSC Ensembl
Outerchr2:232575852..232623556hg38UCSC Ensembl
chr2:233440712..233488116hg19UCSC Ensembl
Innerchr2:233440862..233487966hg19UCSC Ensembl
Outerchr2:233440562..233488266hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3847405
hg1947405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10877652
SamplesHG03854
Known GenesEFHD1, EIF4E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594659
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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