A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696589



Internal ID14753518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137882679..137891277hg38UCSC Ensembl
Innerchr9:137883679..137890277hg38UCSC Ensembl
Outerchr9:137881679..137892277hg38UCSC Ensembl
chr9:140777131..140785729hg19UCSC Ensembl
Innerchr9:140778131..140784729hg19UCSC Ensembl
Outerchr9:140776131..140786729hg19UCSC Ensembl
chr9:139896952..139905550hg18UCSC Ensembl
Innerchr9:139897952..139904550hg18UCSC Ensembl
Outerchr9:139895952..139906550hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg388599
hg198599
hg188599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3378562
Supporting Variants
SamplesNA19240
Known GenesCACNA1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696589
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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