A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5463947



Internal ID9077840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74364045..74364821hg38UCSC Ensembl
chr1:74829729..74830505hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38777
hg19777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2660597
Supporting Variants
SamplesHG01052
Known GenesFPGT-TNNI3K, TNNI3K
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5463947
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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