A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5453233



Internal ID8430636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94086712..94087141hg38UCSC Ensembl
Outerchr14:94086678..94087176hg38UCSC Ensembl
Innerchr14:94553058..94553487hg19UCSC Ensembl
Outerchr14:94553024..94553522hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669953
Supporting Variants
SamplesNA18543
Known GenesIFI27L1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5453233
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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