A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv73e214



Internal ID20121496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197342697..197473758hg38UCSC Ensembl
chr1:197311827..197442888hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38131062
hg19131062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3588497, esv3588498
SamplesHG01052, NA19461, HG02012
Known GenesCRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv73e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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