A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3813167



Internal ID11602018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1240452..1240452hg38UCSC Ensembl
chr4:1234240..1234240hg19UCSC Ensembl
chr4:1224240..1224240hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38110
hg19110
hg18110
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1540743
Supporting Variants
SamplesHuRef
Known GenesCTBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3813167
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