A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10314066



Internal ID4055429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229099964..229107315hg38UCSC Ensembl
chr1:229235711..229243062hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387352
hg197352
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589066
Supporting Variants
SamplesHG03694
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10314066
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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