A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671266



Internal ID9937371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:63784989..63786741hg38UCSC Ensembl
Outerchr8:63784952..63786791hg38UCSC Ensembl
Innerchr8:64697546..64699298hg19UCSC Ensembl
Outerchr8:64697509..64699348hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381840
hg191840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5636715, essv6503528
SamplesNA20586, NA20803
Known GenesLOC286184
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671266
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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