A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308884



Internal ID14809147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88387393..88387394hg38UCSC Ensembl
Innerchr14:88387366..88387421hg38UCSC Ensembl
Outerchr14:88387365..88387422hg38UCSC Ensembl
chr14:88853737..88853738hg19UCSC Ensembl
Innerchr14:88853710..88853765hg19UCSC Ensembl
Outerchr14:88853709..88853766hg19UCSC Ensembl
chr14:87923490..87923491hg18UCSC Ensembl
Innerchr14:87923518..87923463hg18UCSC Ensembl
Outerchr14:87923462..87923519hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836667
SamplesNA19239
Known GenesSPATA7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308884
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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