A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3122n100



Internal ID22789209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:20829333..20883680hg38UCSC Ensembl
chr17:20732646..20786993hg19UCSC Ensembl
chr17:20673238..20727585hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3854348
hg1954348
hg1854348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066490, nsv1064007, nsv1067482, nsv1057410, nsv1065163, nsv1057238
Samples
Known GenesCCDC144NL, LOC440416
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3122n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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