A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588492



Internal ID6628784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197146764..197216505hg38UCSC Ensembl
chr1:197115894..197185635hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3869742
hg1969742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10253779
SamplesHG02012
Known GenesCRB1, ZBTB41
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588492
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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