A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660752



Internal ID9926857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114075875..114077904hg38UCSC Ensembl
chr7:113715930..113717959hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg382030
hg192030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6427517, essv6172945, essv6241894, essv6142046, essv6157341, essv5870653, essv5895367, essv6359233, essv6454373, essv5653580, essv6505619, essv5481732
SamplesNA19819, NA19443, NA20769, NA19445, NA19921, NA18516, NA19461, NA19453, NA19440, NA18517, NA19470, NA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660752
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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