A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1730n100



Internal ID19012098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:92300848..92399755hg38UCSC Ensembl
chr13:92953101..93052008hg19UCSC Ensembl
chr13:91751102..91850009hg18UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3898908
hg1998908
hg1898908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1037815, nsv1051394, nsv1036835, nsv1050788
Samples
Known GenesGPC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1730n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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