A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635277



Internal ID6675390
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15092851
SamplesNA06984
Known GenesEML5, PTPN21, ZC3H14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635277
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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