A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv39e213



Internal ID22786057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1580276..1618432hg38UCSC Ensembl
chr20:1560922..1599078hg19UCSC Ensembl
chr20:1508922..1547078hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3838157
hg1938157
hg1838157
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584966, esv3584965, esv3584964
Samples8S, OA062, OA059, 2RB, OA2A, OA064, 1WS, OA018, KSM003, OA013, OA091, KSF024, OA016
Known GenesSIRPB1
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)dgv39e213
Frequency
Sample Size34
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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