A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305404



Internal ID15152352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30712062..30712063hg38UCSC Ensembl
Innerchr14:30712029..30712096hg38UCSC Ensembl
Outerchr14:30712028..30712097hg38UCSC Ensembl
chr14:31181268..31181269hg19UCSC Ensembl
Innerchr14:31181235..31181302hg19UCSC Ensembl
Outerchr14:31181234..31181303hg19UCSC Ensembl
chr14:30251019..30251020hg18UCSC Ensembl
Innerchr14:30251053..30250986hg18UCSC Ensembl
Outerchr14:30250985..30251054hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38298
hg19298
hg18298
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745242, essv7742770, essv7751895, essv7762503, essv7752307, essv7740341, essv7757397, essv7748235, essv7756716, essv7743642, essv7761188
SamplesNA18980, NA18561, NA18959, NA18940, NA18960, NA18964, NA18951, NA18573, NA18576, NA18542, NA18961
Known GenesSCFD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305404
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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