A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3175n100



Internal ID22789262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43098010..43112517hg38UCSC Ensembl
chr17:41250027..41264534hg19UCSC Ensembl
chr17:38503553..38518060hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3814508
hg1914508
hg1814508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066408, nsv1055369
Samples
Known GenesBRCA1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3175n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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