A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697206



Internal ID13663342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64378014..64383212hg38UCSC Ensembl
Innerchr9:64379014..64382212hg38UCSC Ensembl
Outerchr9:64377014..64384212hg38UCSC Ensembl
chr9:69390432..69395630hg19UCSC Ensembl
Innerchr9:69391432..69394630hg19UCSC Ensembl
Outerchr9:69389432..69396630hg19UCSC Ensembl
chr9:68680252..68685450hg18UCSC Ensembl
Innerchr9:68681252..68684450hg18UCSC Ensembl
Outerchr9:68679252..68686450hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg385199
hg195199
hg185199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3431814
Supporting Variants
SamplesNA12878
Known GenesANKRD20A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697206
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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