A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4381n100



Internal ID22790468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13193869..13883095hg38UCSC Ensembl
chr21:14566190..15255416hg19UCSC Ensembl
chr21:13488061..14177287hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38689227
hg19689227
hg18689227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066753, nsv1066206, nsv1067558, nsv1056586, nsv1057930, nsv1067214, nsv1058352, nsv1059690, nsv1067344, nsv1061692, nsv1058318, nsv1066723, nsv1061525, nsv1062558, nsv1060462, nsv1063479, nsv1058106, nsv1056847, nsv1057185, nsv1066430, nsv1063308, nsv1062638, nsv1056105, nsv1062003, nsv1057732, nsv1063022, nsv1055174, nsv1062202, nsv1062956, nsv1058731, nsv1058907
Samples
Known GenesC21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4381n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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