A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv56e214



Internal ID20121479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158724216..158757728hg38UCSC Ensembl
chr1:158694006..158727518hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3833513
hg1933513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3587680, esv3587678
SamplesNA19466, NA19384
Known GenesOR6K6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv56e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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