A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4235686



Internal ID11171538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83632769..83632769hg38UCSC Ensembl
chr16:83666374..83666374hg19UCSC Ensembl
chr16:82223875..82223875hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38333
hg19333
hg18333
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1369956
Supporting Variants
SamplesHuRef
Known GenesCDH13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4235686
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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