A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4380n100



Internal ID22790467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13080529..13231256hg38UCSC Ensembl
chr21:14452850..14603577hg19UCSC Ensembl
chr21:13374721..13525448hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38150728
hg19150728
hg18150728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065021, nsv1063997
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4380n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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