A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662579



Internal ID9928684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89132296..89137220hg38UCSC Ensembl
chr6:89842015..89846939hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg384925
hg194925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6424239, essv5897547, essv6103937, essv6356104, essv6196203, essv6135465, essv6245607, essv5473326, essv6418940, essv5885628, essv5755236, essv6526337, essv6333377, essv5423564, essv5651764, essv6422596, essv5552556, essv5627092, essv6462330, essv6449109, essv5429516, essv5399623, essv5839412, essv6289571, essv6236044, essv5574200, essv6273845, essv6103533, essv6142194, essv5487510, essv5951592, essv5875058, essv6340962, essv5864672, essv5443055, essv6522959, essv6088797, essv6142033, essv5650091, essv5692818
SamplesNA19704, HG01188, NA20332, NA19190, NA19098, NA18870, NA19107, NA19374, NA19396, NA19319, NA19448, NA19119, NA19916, NA19197, NA20291, NA19404, HG01080, NA18874, NA19238, NA19207, NA19172, NA19317, NA18520, NA19239, NA19209, NA18908, NA19451, HG01187, NA19152, NA18933, NA18871, NA18858, NA19834, NA19435, NA19240, NA19223, NA19312, NA19463, NA19346, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662579
Frequency
Sample Size1151
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer