A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3692781



Internal ID11722403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101106454..101106454hg38UCSC Ensembl
chr4:102027611..102027611hg19UCSC Ensembl
chr4:102246634..102246634hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1177673
Supporting Variants
SamplesHuRef
Known GenesPPP3CA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3692781
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