A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv53e214



Internal ID22755947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151359619..151441151hg38UCSC Ensembl
chr1:151332095..151413627hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3881533
hg1981533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3587527, esv3587524
SamplesNA18998, NA18561, HG02029, NA18959, HG02153, HG03585, NA19007, HG00584, NA18537, HG02494, NA18952, NA18559, NA18629, HG00595
Known GenesPOGZ, PSMB4, SELENBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv53e214
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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