A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3261n100



Internal ID20154877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47339172..47441706hg38UCSC Ensembl
chr17:45416538..45519072hg19UCSC Ensembl
chr17:42771537..42874071hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38102535
hg19102535
hg18102535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062096, nsv1056191
Samples
Known GenesEFCAB13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3261n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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