A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4375n100



Internal ID22790462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:12992198..13160217hg38UCSC Ensembl
chr21:14364519..14532538hg19UCSC Ensembl
chr21:13286390..13454409hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38168020
hg19168020
hg18168020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066559, nsv1056756
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)dgv4375n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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