A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3081n100



Internal ID20154697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1095450..1360904hg38UCSC Ensembl
chr17:998690..1264198hg19UCSC Ensembl
chr17:945440..1210948hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38265455
hg19265509
hg18265509
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062173, nsv1065010, nsv1059875
Samples
Known GenesABR, BHLHA9, TUSC5, YWHAE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3081n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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