A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6207449



Internal ID8937976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48294633..48294955hg38UCSC Ensembl
chr14:48763836..48764158hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2661189
Supporting Variants
SamplesHG00464
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6207449
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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