A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678093



Internal ID13661612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92494148..92494167hg38UCSC Ensembl
Innerchr14:92494144..92494171hg38UCSC Ensembl
Outerchr14:92494125..92494190hg38UCSC Ensembl
chr14:92960492..92960511hg19UCSC Ensembl
Innerchr14:92960488..92960515hg19UCSC Ensembl
Outerchr14:92960469..92960534hg19UCSC Ensembl
chr14:92030245..92030264hg18UCSC Ensembl
Innerchr14:92030268..92030241hg18UCSC Ensembl
Outerchr14:92030222..92030287hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405470
Supporting Variants
SamplesNA12878
Known GenesSLC24A4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678093
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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