A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3369287



Internal ID14869546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882679..137891377hg38UCSC Ensembl
Innerchr9:137883679..137890377hg38UCSC Ensembl
Outerchr9:137881679..137892377hg38UCSC Ensembl
chr9:140777131..140785829hg19UCSC Ensembl
Innerchr9:140778131..140784829hg19UCSC Ensembl
Outerchr9:140776131..140786829hg19UCSC Ensembl
chr9:139896952..139905650hg18UCSC Ensembl
Innerchr9:139897952..139904650hg18UCSC Ensembl
Outerchr9:139895952..139906650hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388699
hg198699
hg188699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4545e59
Supporting Variantsessv8696590
SamplesNA12878
Known GenesCACNA1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3369287
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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