A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13422863



Internal ID866266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:22289931..22483184hg38UCSC Ensembl
chr9:22289930..22483183hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38193254
hg19193254
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619978
Supporting Variants
SamplesHG00457
Known GenesDMRTA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13422863
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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