A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3069n100



Internal ID22789156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:150721..239022hg38UCSC Ensembl
chr17:514..88813hg19UCSC Ensembl
chr17:514..88813hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3888302
hg1988300
hg1888300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055946, nsv1057006
Samples
Known GenesDOC2B, LOC100506371, RPH3AL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3069n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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