A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4210967



Internal ID11146819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89588075..89588075hg38UCSC Ensembl
chr16:89654483..89654483hg19UCSC Ensembl
chr16:88181984..88181984hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1046929
Supporting Variants
SamplesHuRef
Known GenesCPNE7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4210967
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer