A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv201e55



Internal ID20126680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32101294..32196283hg38UCSC Ensembl
chr5:32101400..32196389hg19UCSC Ensembl
chr5:32137157..32232146hg18UCSC Ensembl
chr5:32137157..32232146hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3894990
hg1994990
hg1894990
hg1794990
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34513, esv2752066, esv35127, esv34731
SamplesNA12248, NA18632, SPC_34, NA18562
Known GenesGOLPH3, PDZD2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv201e55
Frequency
Sample Size771
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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