A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5912366



Internal ID9258557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:98271668..98278955hg38UCSC Ensembl
Outerchr8:98271511..98279108hg38UCSC Ensembl
Innerchr8:99283896..99291183hg19UCSC Ensembl
Outerchr8:99283739..99291336hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg387598
hg197598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659931
Supporting Variants
SamplesNA12272
Known GenesNIPAL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5912366
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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