A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6066681



Internal ID8783443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99268779..99275985hg38UCSC Ensembl
Outerchr14:99268408..99276355hg38UCSC Ensembl
Innerchr14:99735116..99742322hg19UCSC Ensembl
Outerchr14:99734745..99742692hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg387948
hg197948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658925
Supporting Variants
SamplesHG00186
Known GenesBCL11B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6066681
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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