A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv203e55



Internal ID22761153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32114037..32260077hg38UCSC Ensembl
chr5:32114143..32260183hg19UCSC Ensembl
chr5:32149900..32295940hg18UCSC Ensembl
chr5:32149900..32295940hg17UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38146041
hg19146041
hg18146041
hg17146041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752068, esv2752069, esv2752070
SamplesBEC_588, BEC_333, BEC_175
Known GenesGOLPH3, MTMR12
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv203e55
Frequency
Sample Size771
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer