A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621652



Internal ID6661830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120574483..120576398hg38UCSC Ensembl
Innerchr9:120574485..120576397hg38UCSC Ensembl
Outerchr9:120574482..120576400hg38UCSC Ensembl
chr9:123336761..123338676hg19UCSC Ensembl
Innerchr9:123336763..123338675hg19UCSC Ensembl
Outerchr9:123336760..123338678hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381916
hg191916
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13615177, essv13615178
SamplesHG03246, HG02465
Known GenesCDK5RAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621652
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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