A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588497



Internal ID6628789
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 Variantsdgv73e214
Supporting Variantsessv10253810, essv10253812, essv10253811
SamplesHG01052, HG02012, NA19461
Known GenesCRB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588497
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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