A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv115e55



Internal ID18985346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12724063..12798179hg38UCSC Ensembl
chr16:12817920..12892036hg19UCSC Ensembl
chr16:12725421..12799537hg18UCSC Ensembl
chr16:12725421..12799537hg17UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3874117
hg1974117
hg1874117
hg1774117
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751548, esv2751547
SamplesBEC_177, BEC_717
Known GenesCPPED1
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)dgv115e55
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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