A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618563



Internal ID5035739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123854680..123855396hg38UCSC Ensembl
Innerchr9:123854680..123855396hg38UCSC Ensembl
Outerchr9:123854410..123855659hg38UCSC Ensembl
chr9:126616959..126617675hg19UCSC Ensembl
Innerchr9:126616959..126617675hg19UCSC Ensembl
Outerchr9:126616689..126617938hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38717
hg19717
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621700
Supporting Variants
SamplesNA18523
Known GenesDENND1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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