A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5238n100



Internal ID22791325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65719874..65775189hg38UCSC Ensembl
chr4:66585592..66640907hg19UCSC Ensembl
chr4:66268187..66323502hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3855316
hg1955316
hg1855316
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010773, nsv1012907, nsv1014229, nsv1001051, nsv1003147, nsv1010357, nsv1001623, nsv1005340, nsv1012554, nsv999127, nsv1006760, nsv1003508
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5238n100
Frequency
Sample Size11257
Observed Gain44
Observed Loss0
Observed Complex0
Frequencyn/a


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