A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3123n100



Internal ID20154739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21328740..21641965hg38UCSC Ensembl
chr17:21232052..21545210hg19UCSC Ensembl
chr17:21172645..21485803hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38313226
hg19313159
hg18313159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1055937, nsv1064660, nsv1061018, nsv1061810, nsv1064102
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3123n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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