A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677806



Internal ID9943911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67562591..67564980hg38UCSC Ensembl
chr11:67330062..67332451hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg382390
hg192390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6147765, essv6079248, essv6486270, essv6333270, essv5807870, essv5558713, essv6532142, essv5495387, essv6264600, essv5453146, essv6116986, essv6563234, essv5876639, essv6435298, essv5713606
SamplesNA12286, NA11995, HG00306, HG00261, NA12413, NA19723, HG00158, NA19720, HG01048, NA12342, NA19654, HG00273, NA12829, NA20828, NA12347
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677806
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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