A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589372



Internal ID6976700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242643711..242869635hg38UCSC Ensembl
chr1:242807013..243032937hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38225925
hg19225925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10356781
SamplesNA19475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589372
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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