A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667007



Internal ID9933112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55612766..55615213hg38UCSC Ensembl
chr5:54908594..54911041hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6574655, essv5913279, essv6118863, essv5782499, essv6232893, essv6459889, essv6594462, essv6093321, essv6394130, essv5407299, essv6553477, essv6400937, essv5884536
SamplesNA20588, NA12843, NA20816, HG00244, NA20589, HG00262, HG00182, NA12748, NA20787, HG01107, HG00269, HG00186, HG00180
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667007
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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