A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13615536



Internal ID6078552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121583093..121589424hg38UCSC Ensembl
Innerchr9:121583093..121589424hg38UCSC Ensembl
Outerchr9:121582945..121589587hg38UCSC Ensembl
chr9:124345372..124351703hg19UCSC Ensembl
Innerchr9:124345372..124351703hg19UCSC Ensembl
Outerchr9:124345224..124351866hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg386332
hg196332
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621666
Supporting Variants
SamplesNA19463
Known GenesDAB2IP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13615536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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