A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv213n100



Internal ID20151829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103458409..103725588hg38UCSC Ensembl
chr1:104001031..104268210hg19UCSC Ensembl
chr1:103773619..104069733hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38267180
hg19267180
hg18296115
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997808, nsv1000860, nsv1002902, nsv999292
Samples
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, LOC101928436, RNPC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv213n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer