A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv449e212



Internal ID22783376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7821394..7989987hg38UCSC Ensembl
chr12:7973990..8142583hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38168594
hg19168594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580527, esv3580538, esv3580516, esv3580460, esv3580483, esv3580449, esv3580472, esv3580505
Samples401110GJ, 400114GR, 401385BB, 401734PG, 401330RR, 400141CC, 401918CA, 400953MR, 401308LD, 401184MM, 400307HW, 400356MC, 400763BT, 401505WI, 401432SB, 400758KP, 4000657TM, 400686BM, 401075MN, 400014SL, 401011PJ, 400999HR, 400201PK, 401057SS, 400471YS, 401025SM, 400044HS, 400930MK, 401612HB, 400243CK
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)dgv449e212
Frequency
Sample Size873
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer