A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661852



Internal ID9927957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:81132081..81134237hg38UCSC Ensembl
Outerchr8:81131710..81134607hg38UCSC Ensembl
Innerchr8:82044316..82046472hg19UCSC Ensembl
Outerchr8:82043945..82046842hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg382898
hg192898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5472542, essv5422316, essv6477430, essv5498970, essv6314079, essv5821186, essv6020206, essv5826192, essv6537031, essv6322703, essv6326315, essv6297739, essv6303730, essv5499729, essv6098792, essv6149763, essv5418413, essv5891722, essv6010845, essv5639390, essv6195268, essv5434250, essv6302007, essv5480721, essv6235925, essv5580115
SamplesNA12286, NA12843, NA11933, NA12400, NA12413, NA12341, NA11918, NA07347, NA12889, NA12748, NA11831, NA12489, NA11919, NA12829, NA11894, NA12546, NA12775, NA07051, NA12046, NA07037, NA12347, NA12830, NA11892, NA07000, NA12776, NA11832
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661852
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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