A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv148e55



Internal ID20126627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43576289..43768352hg38UCSC Ensembl
chr2:43803428..43995491hg19UCSC Ensembl
chr2:43656932..43848995hg18UCSC Ensembl
chr2:43715079..43907142hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38192064
hg19192064
hg18192064
hg17192064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751890, esv2751891, esv2751892
SamplesBEC_642, BEC_557, BEC_305
Known GenesLOC728819, PLEKHH2, THADA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv148e55
Frequency
Sample Size771
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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