A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3030456



Internal ID11050122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196806870..196834870hg38UCSC Ensembl
Innerchr1:196776000..196804000hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3828001
hg1928001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7300023
SamplesHuRef
Known GenesCFHR1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3030456
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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