A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670724



Internal ID9590143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70105882..70108115hg38UCSC Ensembl
chr14:70572599..70574832hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg382234
hg192234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5913124, essv6020097, essv6162699
SamplesNA18870, NA18908, NA19248
Known GenesSLC8A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670724
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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