A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618648



Internal ID5394842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124144900..124153442hg38UCSC Ensembl
Innerchr9:124144900..124153442hg38UCSC Ensembl
Outerchr9:124144662..124153784hg38UCSC Ensembl
chr9:126907179..126915721hg19UCSC Ensembl
Innerchr9:126907179..126915721hg19UCSC Ensembl
Outerchr9:126906941..126916063hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg388543
hg198543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621712
Supporting Variants
SamplesNA18941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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