A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9666546



Internal ID13426973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64108767..64108786hg38UCSC Ensembl
Innerchr14:64108763..64108790hg38UCSC Ensembl
Outerchr14:64108744..64108809hg38UCSC Ensembl
chr14:64575485..64575504hg19UCSC Ensembl
Innerchr14:64575481..64575508hg19UCSC Ensembl
Outerchr14:64575462..64575527hg19UCSC Ensembl
chr14:63645238..63645257hg18UCSC Ensembl
Innerchr14:63645261..63645234hg18UCSC Ensembl
Outerchr14:63645215..63645280hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417928
Supporting Variants
SamplesNA12249
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9666546
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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