A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6838n54



Internal ID20140262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44297436..44341555hg38UCSC Ensembl
chr2:44524575..44568694hg19UCSC Ensembl
chr2:44378079..44422198hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3844120
hg1944120
hg1844120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581697, nsv581696
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6838n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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