A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385868



Internal ID15232838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:64399966..64407757hg38UCSC Ensembl
Innerchr9:64400969..64406760hg38UCSC Ensembl
Outerchr9:64398969..64408756hg38UCSC Ensembl
chr9:43095356..43103154hg19UCSC Ensembl
Innerchr9:43096356..43102154hg19UCSC Ensembl
Outerchr9:43094356..43104154hg19UCSC Ensembl
chr9:43085352..43093150hg18UCSC Ensembl
Innerchr9:43086352..43092150hg18UCSC Ensembl
Outerchr9:43084352..43094150hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg387792
hg197799
hg187799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4353e59
Supporting Variantsessv8696826
SamplesNA12892
Known GenesANKRD20A2, ANKRD20A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385868
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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