A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658915



Internal ID9578334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35128254..35129001hg38UCSC Ensembl
chr20:33716057..33716804hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6087289, essv6132818, essv6428556, essv6353238, essv5927159, essv5725434, essv5967144, essv5606134, essv5515137, essv5916670, essv6026748, essv5894262, essv6128808, essv5488709, essv6452613, essv6068877, essv5532953, essv6558351, essv5764647, essv6471443, essv6281011, essv5458928, essv5527906, essv6273176, essv6083438, essv5576655, essv6049189, essv5537768, essv5474767, essv6417753, essv6144481, essv5960450, essv5701590, essv5836249
SamplesNA12717, NA19332, NA18507, NA19092, NA18486, HG01465, NA19396, NA19373, NA19379, HG00311, NA19404, NA19383, NA20812, HG00323, NA19921, NA19908, HG01171, NA19403, NA20809, NA19455, NA20282, HG01075, NA20765, NA19390, HG00136, NA20530, HG00237, NA19328, NA19711, NA20503, NA20754, NA19429, NA18562, NA19676
Known GenesEDEM2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658915
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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