A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3080n100



Internal ID20154696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:987971..1330752hg38UCSC Ensembl
chr17:891211..1234046hg19UCSC Ensembl
chr17:837961..1180796hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38342782
hg19342836
hg18342836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064610, nsv1064320
Samples
Known GenesABR, BHLHA9, MIR3183, TIMM22, TUSC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3080n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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