A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670854



Internal ID9590273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67003556..67003689hg38UCSC Ensembl
chr14:67470273..67470406hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5599277, essv5545208
SamplesHG00428, HG00475
Known GenesGPHN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670854
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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