A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664704



Internal ID9584123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46379456..46397406hg38UCSC Ensembl
Outerchr10:46379085..46397776hg38UCSC Ensembl
Innerchr10:47750716..47768672hg19UCSC Ensembl
Outerchr10:47750345..47769042hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3818692
hg1918698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv135e199
Supporting Variantsessv6406464, essv5543940, essv5812806, essv6415709, essv5725626, essv5953424, essv6083479, essv6444824, essv6236226, essv5515404, essv5885967, essv6009466, essv6319670, essv6161594, essv5655931, essv5626325, essv5623020, essv5567633, essv6124830, essv6043028, essv6593360, essv5761513, essv5579048, essv6328106, essv5993885, essv5550030
SamplesNA19703, NA19909, NA19914, NA19704, NA20294, NA20346, NA19916, NA20287, NA19904, NA20291, NA20278, NA19917, NA19901, NA20342, NA20127, NA19985, NA19921, NA19908, NA20126, NA20282, NA19712, NA19835, NA20348, NA20289, NA19711, NA20322
Known GenesANXA8L1, ANXA8L2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664704
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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