A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5650327



Internal ID8627730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99171679..99176085hg38UCSC Ensembl
Outerchr14:99171308..99176455hg38UCSC Ensembl
Innerchr14:99638016..99642422hg19UCSC Ensembl
Outerchr14:99637645..99642792hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671501
Supporting Variants
SamplesHG00537
Known GenesBCL11B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5650327
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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