A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv28e214



Internal ID22755922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74183056..74208995hg38UCSC Ensembl
chr1:74648740..74674679hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3825940
hg1925940
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3586453, esv3586452
SamplesHG01918, HG01961, HG02262, HG02150, HG02275, HG01944, HG01456, HG01971, HG01250, NA19792, HG02266, HG01110, HG01069, HG01398, NA19731, HG01892, NA19725, HG01979, NA19655, HG01921, HG02292, HG01936, HG01075, HG02304, HG01977, HG01260, HG01991, HG01807, HG01112, HG02006, HG01926
Known GenesFPGT, FPGT-TNNI3K, LRRIQ3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv28e214
Frequency
Sample Size2504
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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