A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662278



Internal ID9581697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142985416..142986925hg38UCSC Ensembl
Outerchr8:142985259..142987078hg38UCSC Ensembl
Innerchr8:144066833..144068342hg19UCSC Ensembl
Outerchr8:144066676..144068495hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381820
hg191820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5560296, essv6392161
SamplesNA19347, NA18522
Known GenesLOC100133669
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662278
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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