A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv469n100



Internal ID20152085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179125436..179151803hg38UCSC Ensembl
chr1:179094571..179120938hg19UCSC Ensembl
chr1:177361194..177387561hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3826368
hg1926368
hg1826368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1012667, nsv1002253
Samples
Known GenesABL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv469n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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