A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13615519



Internal ID5768211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121461112..121468993hg38UCSC Ensembl
Innerchr9:121461162..121468943hg38UCSC Ensembl
Outerchr9:121461062..121469043hg38UCSC Ensembl
chr9:124223390..124231271hg19UCSC Ensembl
Innerchr9:124223440..124231221hg19UCSC Ensembl
Outerchr9:124223340..124231321hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg387882
hg197882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621663
Supporting Variants
SamplesNA19138
Known GenesGGTA1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13615519
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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