A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv183e214



Internal ID20121606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5226569..5249609hg38UCSC Ensembl
chr11:5247799..5270839hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3823041
hg1923041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3625217, esv3625216
SamplesHG00650, NA19378, NA19035, NA19475, HG00672, HG00581
Known GenesHBB, HBBP1, HBD, HBG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv183e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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