A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664854



Internal ID9930959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124267726..124267994hg38UCSC Ensembl
chr8:125279967..125280235hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6169524, essv6128797, essv5858450, essv5677706, essv5534249, essv6415583, essv5606757, essv6448109, essv6323509, essv5403480, essv6327966, essv5662048, essv5844536, essv5444502, essv6255570, essv5400101, essv6027249, essv5937350, essv5818642, essv5743980, essv5558161, essv5602093, essv6251353, essv5935310, essv5528407, essv5709414, essv5408145, essv5658186, essv6399138, essv6217531
SamplesNA18502, HG00650, NA19703, NA11829, NA18592, NA18508, NA19399, NA18486, NA19377, HG00693, NA18489, NA19119, NA18571, NA19138, HG01365, NA19404, NA19238, HG00557, NA19462, NA18516, NA18637, NA18981, HG01390, NA19114, NA18912, HG00476, NA19321, HG00620, HG00707, NA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664854
Frequency
Sample Size1151
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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