A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13616183



Internal ID4557566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121649191..121649509hg38UCSC Ensembl
Innerchr9:121649193..121649508hg38UCSC Ensembl
Outerchr9:121649190..121649511hg38UCSC Ensembl
chr9:124411470..124411788hg19UCSC Ensembl
Innerchr9:124411472..124411787hg19UCSC Ensembl
Outerchr9:124411469..124411790hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621668
Supporting Variants
SamplesHG04060
Known GenesDAB2IP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13616183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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