A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv284n100



Internal ID22786371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112135938..112163584hg38UCSC Ensembl
chr1:112678560..112706206hg19UCSC Ensembl
chr1:112480083..112507729hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3827647
hg1927647
hg1827647
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998131, nsv1005371, nsv1003757
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv284n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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