A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3114n100



Internal ID22789201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18452066..18629085hg38UCSC Ensembl
chr17:18355380..18532398hg19UCSC Ensembl
chr17:18296105..18473123hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38177020
hg19177019
hg18177019
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1067481, nsv1058143, nsv1060436, nsv1067547
Samples
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3114n100
Frequency
Sample Size11257
Observed Gain42
Observed Loss13
Observed Complex0
Frequencyn/a


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