A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660597



Internal ID9926702
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 StatusM
Merged Variants
Supporting Variantsessv6119092, essv6203862, essv6339370, essv5463947, essv5859336, essv5575450, essv6503471
SamplesHG01052, NA19920, NA19385, NA18523, NA19436, NA19440, HG01125
Known GenesFPGT-TNNI3K, TNNI3K
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660597
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer