A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4163n100



Internal ID19014531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210278131..210350344hg38UCSC Ensembl
chr2:211142855..211215068hg19UCSC Ensembl
chr2:210851100..210923313hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3872214
hg1972214
hg1872214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010916, nsv1014508
Samples
Known GenesMYL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4163n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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