A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696504



Internal ID15099646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109971751..109975249hg38UCSC Ensembl
Innerchr9:109972751..109974249hg38UCSC Ensembl
Outerchr9:109970751..109976249hg38UCSC Ensembl
chr9:112734031..112737529hg19UCSC Ensembl
Innerchr9:112735031..112736529hg19UCSC Ensembl
Outerchr9:112733031..112738529hg19UCSC Ensembl
chr9:111773852..111777350hg18UCSC Ensembl
Innerchr9:111774852..111776350hg18UCSC Ensembl
Outerchr9:111772852..111778350hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369203
Supporting Variants
SamplesNA19240
Known GenesPALM2-AKAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696504
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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