A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10314056



Internal ID4470966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229099964..229107315hg38UCSC Ensembl
chr1:229235711..229243062hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg387352
hg197352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589065
Supporting Variants
SamplesHG03973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10314056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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