A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13384006



Internal ID3385822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4990900..5003074hg38UCSC Ensembl
Innerchr9:4990900..5003074hg38UCSC Ensembl
Outerchr9:4990754..5003253hg38UCSC Ensembl
chr9:4990900..5003074hg19UCSC Ensembl
Innerchr9:4990900..5003074hg19UCSC Ensembl
Outerchr9:4990754..5003253hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3812175
hg1912175
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619364
Supporting Variants
SamplesHG02394
Known GenesJAK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13384006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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