A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4454n71



Internal ID6322074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233340715..233428275hg19UCSC Ensembl
chr2:233048959..233136519hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnsv876005, nsv876007, nsv876004
SamplesMS10311, MS16153, MS18276
Known GenesCHRND, CHRNG, ECEL1, EIF4E2, PRSS56, TIGD1
Method
Analysis
Platform
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)dgv4454n71
Frequency
Sample Size6533
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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