A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5763n100



Internal ID22791850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104885133..105113506hg38UCSC Ensembl
chr5:104220834..104449207hg19UCSC Ensembl
chr5:104248733..104477106hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38228374
hg19228374
hg18228374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1022543, nsv1023308
Samples
Known GenesRAB9BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5763n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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