A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4379n100



Internal ID22790466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:13041804..13842387hg38UCSC Ensembl
chr21:14414125..15214708hg19UCSC Ensembl
chr21:13335996..14136579hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38800584
hg19800584
hg18800584
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056643, nsv1059401, nsv1067043, nsv1067181, nsv1060254, nsv1061098, nsv1062126
Samples
Known GenesANKRD30BP2, 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)dgv4379n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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