A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390584



Internal ID15237551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64385914..64389812hg38UCSC Ensembl
Innerchr9:64386914..64388812hg38UCSC Ensembl
Outerchr9:64384914..64390812hg38UCSC Ensembl
chr9:69398332..69402230hg19UCSC Ensembl
Innerchr9:69399332..69401230hg19UCSC Ensembl
Outerchr9:69397332..69403230hg19UCSC Ensembl
chr9:68688152..68692050hg18UCSC Ensembl
Innerchr9:68689152..68691050hg18UCSC Ensembl
Outerchr9:68687152..68693050hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg383899
hg193899
hg183899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8697207
SamplesNA12878
Known GenesANKRD20A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390584
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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