A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4378n100



Internal ID20155994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:12992198..13944123hg38UCSC Ensembl
chr21:14364519..15316444hg19UCSC Ensembl
chr21:13286390..14238315hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38951926
hg19951926
hg18951926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1061933, nsv1063726, nsv1062937, nsv1059560, nsv1055192
Samples
Known GenesANKRD20A11P, ANKRD30BP2, C21orf15, 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)dgv4378n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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