A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8966746



Internal ID13747618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65260727..65260746hg38UCSC Ensembl
Innerchr14:65260725..65260748hg38UCSC Ensembl
Outerchr14:65260706..65260767hg38UCSC Ensembl
chr14:65727445..65727464hg19UCSC Ensembl
Innerchr14:65727443..65727466hg19UCSC Ensembl
Outerchr14:65727424..65727485hg19UCSC Ensembl
chr14:64797198..64797217hg18UCSC Ensembl
Innerchr14:64797219..64797196hg18UCSC Ensembl
Outerchr14:64797177..64797238hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3377897
Supporting Variants
SamplesNA18489
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8966746
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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