A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3865191



Internal ID11549994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83444841..83444841hg38UCSC Ensembl
chr16:83478446..83478446hg19UCSC Ensembl
chr16:82035947..82035947hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1557614
Supporting Variants
SamplesHuRef
Known GenesCDH13
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3865191
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