A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv77e214



Internal ID22755971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225848202..225866630hg38UCSC Ensembl
chr1:226035903..226054330hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3818429
hg1918428
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3589003, esv3589002
SamplesHG03604, HG01866
Known GenesTMEM63A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv77e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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