A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621686



Internal ID6661863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122966766..122970199hg38UCSC Ensembl
Innerchr9:122966766..122970199hg38UCSC Ensembl
Outerchr9:122966632..122970372hg38UCSC Ensembl
chr9:125729045..125732478hg19UCSC Ensembl
Innerchr9:125729045..125732478hg19UCSC Ensembl
Outerchr9:125728911..125732651hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg383434
hg193434
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13618337
SamplesHG00114
Known GenesRABGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621686
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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