A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13518587



Internal ID632422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:73336820..73372349hg38UCSC Ensembl
chr9:75951736..75987265hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3835530
hg1935530
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620665
Supporting Variants
SamplesHG00276
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13518587
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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