A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6575661



Internal ID9553064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88762017..88772737hg38UCSC Ensembl
Outerchr14:88761860..88772890hg38UCSC Ensembl
Innerchr14:89228361..89239081hg19UCSC Ensembl
Outerchr14:89228204..89239234hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3811031
hg1911031
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678445
Supporting Variants
SamplesNA12843
Known GenesEML5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6575661
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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