A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668841



Internal ID9934946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:40633743..40635274hg38UCSC Ensembl
Outerchr4:40633696..40635339hg38UCSC Ensembl
Innerchr4:40635760..40637291hg19UCSC Ensembl
Outerchr4:40635713..40637356hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381644
hg191644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5419563, essv6315452, essv5879173, essv5579886, essv6518648, essv6053472, essv6242352, essv5711955, essv5444920
SamplesNA19374, NA19373, NA19382, HG01171, NA19453, NA19390, NA19473, HG01342, NA19248
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668841
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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