A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8966794



Internal ID13782920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74259421..74259438hg38UCSC Ensembl
Innerchr14:74259420..74259439hg38UCSC Ensembl
Outerchr14:74259403..74259456hg38UCSC Ensembl
chr14:74726124..74726141hg19UCSC Ensembl
Innerchr14:74726123..74726142hg19UCSC Ensembl
Outerchr14:74726106..74726159hg19UCSC Ensembl
chr14:73795877..73795894hg18UCSC Ensembl
Innerchr14:73795895..73795876hg18UCSC Ensembl
Outerchr14:73795859..73795912hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323548
Supporting Variants
SamplesNA18501
Known GenesVSX2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8966794
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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