A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14644436



Internal ID4646280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131738611..131761661hg38UCSC Ensembl
chr12:132223156..132246206hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3823051
hg1923051
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631274
Supporting Variants
SamplesNA18537
Known GenesSFSWAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14644436
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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