A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588472



Internal ID6975889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196766765..196795810hg38UCSC Ensembl
chr1:196735895..196764940hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3829046
hg1929046
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10250127, essv10250126
SamplesNA19318, NA19324
Known GenesCFHR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588472
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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