A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660567



Internal ID9926672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137845639..137852266hg38UCSC Ensembl
chr5:137181328..137187955hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386628
hg196628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6175511, essv6081202, essv6354029, essv6043763, essv6006008, essv5819849
SamplesNA12273, NA19789, HG01124, HG00282, HG01073, HG00136
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660567
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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