A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633681



Internal ID7020489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20213255..20257091hg38UCSC Ensembl
Innerchr14:20213255..20257091hg38UCSC Ensembl
Outerchr14:20212755..20257591hg38UCSC Ensembl
chr14:20681414..20725250hg19UCSC Ensembl
Innerchr14:20681414..20725250hg19UCSC Ensembl
Outerchr14:20680914..20725750hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3843837
hg1943837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14923766, essv14923765
SamplesHG01462, HG02502
Known GenesOR11H4, OR11H6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633681
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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