A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696538



Internal ID14711598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132377244..132379142hg38UCSC Ensembl
Innerchr9:132378142..132378244hg38UCSC Ensembl
Outerchr9:132376244..132380142hg38UCSC Ensembl
chr9:135252631..135254529hg19UCSC Ensembl
Innerchr9:135253529..135253631hg19UCSC Ensembl
Outerchr9:135251631..135255529hg19UCSC Ensembl
chr9:134242452..134244350hg18UCSC Ensembl
Innerchr9:134243452..134243350hg18UCSC Ensembl
Outerchr9:134241452..134245350hg18UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3382808
Supporting Variants
SamplesNA19239
Known GenesTTF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696538
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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