A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3682983



Internal ID11732200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88711382..88711382hg38UCSC Ensembl
chr14:89177726..89177726hg19UCSC Ensembl
chr14:88247479..88247479hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg381391
hg191391
hg181391
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1552947
Supporting Variants
SamplesHuRef
Known GenesEML5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3682983
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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