A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3669841



Internal ID11745342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88684236..88684236hg38UCSC Ensembl
chr14:89150580..89150580hg19UCSC Ensembl
chr14:88220333..88220333hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg382728
hg192728
hg182728
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1437722
Supporting Variants
SamplesHuRef
Known GenesEML5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3669841
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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