A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6837n54



Internal ID20140261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:44278046..44351759hg38UCSC Ensembl
chr2:44505185..44578898hg19UCSC Ensembl
chr2:44358689..44432402hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3873714
hg1973714
hg1873714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581693, nsv581694
Samples
Known GenesPREPL, SLC3A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6837n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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