A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1003n100



Internal ID19011371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133429369..133576380hg38UCSC Ensembl
chr10:135242873..135389884hg19UCSC Ensembl
chr10:135092863..135239874hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38147012
hg19147012
hg18147012
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1044836, nsv1048826, nsv1045205, nsv1051092, nsv1044227, nsv1037833, nsv1037834
Samples
Known GenesCYP2E1, SCART1, SPRNP1, SYCE1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1003n100
Frequency
Sample Size29084
Observed Gain230
Observed Loss19
Observed Complex0
Frequencyn/a


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