A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306428



Internal ID15153376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30385461..30385462hg38UCSC Ensembl
Innerchr14:30385422..30385501hg38UCSC Ensembl
Outerchr14:30385421..30385502hg38UCSC Ensembl
chr14:30854667..30854668hg19UCSC Ensembl
Innerchr14:30854628..30854707hg19UCSC Ensembl
Outerchr14:30854627..30854708hg19UCSC Ensembl
chr14:29924418..29924419hg18UCSC Ensembl
Innerchr14:29924458..29924379hg18UCSC Ensembl
Outerchr14:29924378..29924459hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381172
hg191172
hg181172
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753130, essv7751330, essv7753419, essv7750722, essv7743020, essv7752509, essv7762118
SamplesNA12004, NA11993, NA11919, NA12892, NA19099, NA12043, NA07037
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306428
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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