A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666546



Internal ID9932651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:128621722..128623511hg38UCSC Ensembl
Outerchr9:128621685..128623561hg38UCSC Ensembl
Innerchr9:131384001..131385790hg19UCSC Ensembl
Outerchr9:131383964..131385840hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381877
hg191877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5978945, essv6430932, essv5944190, essv5686708
SamplesNA19446, NA19453, NA19434, NA19430
Known GenesSPTAN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666546
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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