A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586268



Internal ID6973789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64550155..64626769hg38UCSC Ensembl
chr1:65015838..65092452hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3876615
hg1976615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9954597
SamplesHG00704
Known GenesCACHD1, MIR4794
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586268
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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