A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13595248



Internal ID3093251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109041404..109042932hg38UCSC Ensembl
Innerchr9:109041419..109042917hg38UCSC Ensembl
Outerchr9:109041389..109042947hg38UCSC Ensembl
chr9:111803684..111805212hg19UCSC Ensembl
Innerchr9:111803699..111805197hg19UCSC Ensembl
Outerchr9:111803669..111805227hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621428
Supporting Variants
SamplesHG02721
Known GenesTMEM245
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13595248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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