A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11591468



Internal ID5554854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123842261..123997009hg38UCSC Ensembl
chr4:124763416..124918164hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38154749
hg19154749
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602053
Supporting Variants
SamplesNA19007
Known GenesLINC01091
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11591468
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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