A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4338244



Internal ID11274096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247870642..247870642hg38UCSC Ensembl
chr1:248033944..248033944hg19UCSC Ensembl
chr1:246100567..246100567hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38750
hg19750
hg18750
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1620378
Supporting Variants
SamplesHuRef
Known GenesTRIM58
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4338244
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