A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3718897



Internal ID12042973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55331843..55331843hg38UCSC Ensembl
chr14:55798561..55798561hg19UCSC Ensembl
chr14:54868314..54868314hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1218411
Supporting Variants
SamplesHuRef
Known GenesFBXO34
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3718897
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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