A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696591



Internal ID13358809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882679..137891477hg38UCSC Ensembl
Innerchr9:137883679..137890477hg38UCSC Ensembl
Outerchr9:137881679..137892477hg38UCSC Ensembl
chr9:140777131..140785929hg19UCSC Ensembl
Innerchr9:140778131..140784929hg19UCSC Ensembl
Outerchr9:140776131..140786929hg19UCSC Ensembl
chr9:139896952..139905750hg18UCSC Ensembl
Innerchr9:139897952..139904750hg18UCSC Ensembl
Outerchr9:139895952..139906750hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388799
hg198799
hg188799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3362183
Supporting Variants
SamplesNA12891
Known GenesCACNA1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696591
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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