A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15092851



Internal ID5094667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88463565..88664404hg38UCSC Ensembl
chr14:88929909..89130748hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38200840
hg19200840
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635277
Supporting Variants
SamplesNA06984
Known GenesEML5, PTPN21, ZC3H14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15092851
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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