A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351007



Internal ID15197988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73555451..73555463hg38UCSC Ensembl
Innerchr14:73555428..73555486hg38UCSC Ensembl
Outerchr14:73555416..73555498hg38UCSC Ensembl
chr14:74022155..74022167hg19UCSC Ensembl
Innerchr14:74022132..74022190hg19UCSC Ensembl
Outerchr14:74022120..74022202hg19UCSC Ensembl
chr14:73091908..73091920hg18UCSC Ensembl
Innerchr14:73091943..73091885hg18UCSC Ensembl
Outerchr14:73091873..73091955hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865763
SamplesNA12005
Known GenesHEATR4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351007
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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