A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664273



Internal ID9583692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75846721..75848573hg38UCSC Ensembl
chr14:76313064..76314916hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381853
hg191853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5593709, essv5710785, essv6323606, essv6341449
SamplesNA19904, NA18871, NA19819, NA18487
Known GenesTTLL5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664273
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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