A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv249e199



Internal ID22758022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127405119..127410647hg38UCSC Ensembl
chr11:127275014..127280542hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg385529
hg195529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666998, esv2670316
SamplesNA19443, NA19190, NA18510, NA19130, NA19189, NA19445, NA19455, NA19449, NA19453, NA19452, NA19321, NA19434, NA19473, NA19470, NA19467, NA19468, NA19102, NA19312, NA18522, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv249e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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