A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv183e55



Internal ID20126662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100623649..100774218hg38UCSC Ensembl
chr3:100342493..100493062hg19UCSC Ensembl
chr3:101825183..101975752hg18UCSC Ensembl
chr3:101825183..101975752hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38150570
hg19150570
hg18150570
hg17150570
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751974, esv2751972, esv2751973, esv2751971
SamplesSPC_195, BEC_691, SPC_174, SPC_124
Known GenesABI3BP, GPR128, TFG
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)dgv183e55
Frequency
Sample Size771
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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