A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652418



Internal ID15103506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133382393..133383862hg38UCSC Ensembl
Innerchr9:133382393..133383862hg38UCSC Ensembl
Outerchr9:133381875..133384701hg38UCSC Ensembl
chr9:136249265..136249646hg19UCSC Ensembl
Innerchr9:136249265..136249646hg19UCSC Ensembl
Outerchr9:136248747..136250485hg19UCSC Ensembl
chr9:135239086..135239467hg18UCSC Ensembl
Innerchr9:135239086..135239467hg18UCSC Ensembl
Outerchr9:135238568..135240306hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381470
hg19382
hg18382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361911
Supporting Variants
SamplesNA19240
Known GenesC9orf96
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652418
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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