A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5249n100



Internal ID22791336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68418861..68623605hg38UCSC Ensembl
chr4:69284579..69489323hg19UCSC Ensembl
chr4:68967174..69171918hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38204745
hg19204745
hg18204745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000833, nsv1013677, nsv1001437, nsv1007869, nsv1006626, nsv1009200, nsv1005790, nsv1000718, nsv1003912, nsv1000615, nsv1008822, nsv999825, nsv1015034, nsv997737, nsv1011834, nsv1011369, nsv1006058, nsv1004811, nsv1002812, nsv1012499, nsv1006024, nsv1010332, nsv1006043, nsv1014494, nsv1006008, nsv1010435, nsv1006040
Samples
Known GenesTMPRSS11E, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5249n100
Frequency
Sample Size11257
Observed Gain134
Observed Loss0
Observed Complex0
Frequencyn/a


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