A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14649907



Internal ID4651723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132804989..132840886hg38UCSC Ensembl
chr12:133381575..133417472hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3835898
hg1935898
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631320
Supporting Variants
SamplesNA18934
Known GenesCHFR, GOLGA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14649907
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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