A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302505



Internal ID15149452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39033511..39033649hg38UCSC Ensembl
Innerchr14:39033580..39033580hg38UCSC Ensembl
Outerchr14:39033411..39033749hg38UCSC Ensembl
chr14:39502715..39502853hg19UCSC Ensembl
Innerchr14:39502784..39502784hg19UCSC Ensembl
Outerchr14:39502615..39502953hg19UCSC Ensembl
chr14:38572466..38572604hg18UCSC Ensembl
Innerchr14:38572535..38572535hg18UCSC Ensembl
Outerchr14:38572366..38572704hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38139
hg19139
hg18139
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1236e59
Supporting Variantsessv7730958, essv7731020, essv7731429, essv7731092, essv7731300, essv7731537
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesSEC23A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302505
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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