A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12e196



Internal ID20123211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73675043..74565539hg38UCSC Ensembl
chr17:71671182..72561678hg19UCSC Ensembl
chr17:69182777..70073273hg18UCSC Ensembl
chr17:69182777..70073273hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38890497
hg19890497
hg18890497
hg17890497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422280, esv2422233
SamplesND02258, ND04274
Known GenesBTBD17, CD300A, CD300C, CD300LB, DNAI2, GPR142, GPRC5C, KIF19, LINC00469, LOC100134391, LOC400620, MGC16275, RPL38, TTYH2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv12e196
Frequency
Sample Size181
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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