A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv202e55



Internal ID22761152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32114037..32149137hg38UCSC Ensembl
chr5:32114143..32149243hg19UCSC Ensembl
chr5:32149900..32185000hg18UCSC Ensembl
chr5:32149900..32185000hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3835101
hg1935101
hg1835101
hg1735101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv35103, esv2752067
SamplesBEC_382, NA18951
Known GenesGOLPH3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv202e55
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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