A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1122953



Internal ID12286076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201281935..201284727hg38UCSC Ensembl
chr2:202146658..202149450hg19UCSC Ensembl
chr2:201854903..201857695hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382793
hg192793
hg182793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4019034
SamplesHuRef
Known GenesCASP8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1122953
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