A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1046929



Internal ID11863368
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4210967
SamplesHuRef
Known GenesCPNE7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1046929
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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