A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14644435



Internal ID4646279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131697838..131723410hg38UCSC Ensembl
chr12:132182383..132207955hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3825573
hg1925573
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631272
Supporting Variants
SamplesNA18537
Known GenesSFSWAP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14644435
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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