A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4105136



Internal ID11310053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89588095..89588095hg38UCSC Ensembl
chr16:89654503..89654503hg19UCSC Ensembl
chr16:88182004..88182004hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38302
hg19302
hg18302
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1215908
Supporting Variants
SamplesHuRef
Known GenesCPNE7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4105136
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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