A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13595262



Internal ID3597078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109139032..109143242hg38UCSC Ensembl
Innerchr9:109139182..109143092hg38UCSC Ensembl
Outerchr9:109138882..109143392hg38UCSC Ensembl
chr9:111901312..111905522hg19UCSC Ensembl
Innerchr9:111901462..111905372hg19UCSC Ensembl
Outerchr9:111901162..111905672hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg384211
hg194211
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621429
Supporting Variants
SamplesHG02137
Known GenesFRRS1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13595262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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