A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689112



Internal ID15016553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18223524..18280573hg38UCSC Ensembl
Innerchr14:18224475..18279573hg38UCSC Ensembl
Outerchr14:18223524..18281573hg38UCSC Ensembl
chr14:19000001..19057050hg19UCSC Ensembl
Innerchr14:19000952..19056050hg19UCSC Ensembl
Outerchr14:19000001..19058050hg19UCSC Ensembl
chr14:18069952..18127050hg18UCSC Ensembl
Innerchr14:18070952..18126050hg18UCSC Ensembl
Outerchr14:18068952..18128050hg18UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg3857050
hg1957050
hg1857099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3409051
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689112
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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