A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447303



Internal ID15294253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94378908..94378908hg38UCSC Ensembl
Innerchr14:94378907..94378909hg38UCSC Ensembl
Outerchr14:94378858..94378958hg38UCSC Ensembl
chr14:94845245..94845245hg19UCSC Ensembl
Innerchr14:94845244..94845246hg19UCSC Ensembl
Outerchr14:94845195..94845295hg19UCSC Ensembl
chr14:93914998..93914998hg18UCSC Ensembl
Innerchr14:93914999..93914997hg18UCSC Ensembl
Outerchr14:93914948..93915048hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38606
hg19606
hg18606
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740811
SamplesNA19240
Known GenesSERPINA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447303
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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