A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618607



Internal ID5111029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123896773..123903479hg38UCSC Ensembl
Innerchr9:123896773..123903479hg38UCSC Ensembl
Outerchr9:123896273..123903979hg38UCSC Ensembl
chr9:126659052..126665758hg19UCSC Ensembl
Innerchr9:126659052..126665758hg19UCSC Ensembl
Outerchr9:126658552..126666258hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386707
hg196707
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621701
Supporting Variants
SamplesNA18559
Known GenesDENND1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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