A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809562



Internal ID13653666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133382386..133383767hg38UCSC Ensembl
Innerchr9:133382385..133383768hg38UCSC Ensembl
Outerchr9:133382276..133383887hg38UCSC Ensembl
chr9:136249258..136249551hg19UCSC Ensembl
Innerchr9:136249257..136249552hg19UCSC Ensembl
Outerchr9:136249148..136249671hg19UCSC Ensembl
chr9:135239079..135239372hg18UCSC Ensembl
Innerchr9:135239373..135239078hg18UCSC Ensembl
Outerchr9:135238969..135239492hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg381382
hg19294
hg18294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3355251
Supporting Variants
SamplesNA12878
Known GenesC9orf96
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809562
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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