A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15002628



Internal ID6892644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45250640..45253180hg38UCSC Ensembl
Innerchr14:45250650..45253170hg38UCSC Ensembl
Outerchr14:45250630..45253190hg38UCSC Ensembl
chr14:45719843..45722383hg19UCSC Ensembl
Innerchr14:45719853..45722373hg19UCSC Ensembl
Outerchr14:45719833..45722393hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg382541
hg192541
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634344
Supporting Variants
SamplesNA21106
Known GenesMIS18BP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15002628
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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