A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3744628



Internal ID12017242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179901278..179901330hg38UCSC Ensembl
chr3:179619066..179619118hg19UCSC Ensembl
chr3:181101760..181101812hg18UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1408102
Supporting Variants
SamplesHuRef
Known GenesPEX5L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3744628
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer