A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6289n100



Internal ID20157905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16230707..17452994hg38UCSC Ensembl
chr7:16270332..17492618hg19UCSC Ensembl
chr7:16236857..17459143hg18UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg381222288
hg191222287
hg181222287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1032815, nsv1022713
Samples
Known GenesAGR2, AGR3, AHR, ANKMY2, BZW2, ISPD, ISPD-AS1, LRRC72, SOSTDC1, TSPAN13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6289n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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