A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574372



Internal ID7045754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201281929..201284720hg38UCSC Ensembl
chr2:202146652..202149443hg19UCSC Ensembl
chr2:201854897..201857688hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382792
hg192792
hg182792
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009106
Supporting Variants
SamplesHuRef
Known GenesCASP8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574372
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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