A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6120791



Internal ID9098195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47300592..47303173hg38UCSC Ensembl
Outerchr20:47300555..47303223hg38UCSC Ensembl
Innerchr20:45929336..45931917hg19UCSC Ensembl
Outerchr20:45929299..45931967hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382669
hg192669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663936
Supporting Variants
SamplesNA18628
Known GenesZMYND8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6120791
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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