A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009106



Internal ID7059152
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574372
SamplesHuRef
Known GenesCASP8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009106
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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