A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586452



Internal ID6626765
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 Variantsdgv28e214
Supporting Variantsessv9974681, essv9974676, essv9974678, essv9974689, essv9974692, essv9974685, essv9974675, essv9974691, essv9974673, essv9974667, essv9974683, essv9974668, essv9974679, essv9974690, essv9974677, essv9974671, essv9974665, essv9974664, essv9974674, essv9974663, essv9974687, essv9974669, essv9974670, essv9974684, essv9974680, essv9974672, essv9974682, essv9974686, essv9974666, essv9974688
SamplesHG01918, HG01961, HG02262, HG02150, HG02275, HG01944, HG01456, HG01971, HG01250, NA19792, HG02266, HG01110, HG01069, HG01398, NA19731, HG01892, NA19725, HG01979, NA19655, HG01921, HG02292, HG01936, HG01075, HG02304, 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)esv3586452
Frequency
Sample Size2504
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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