A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697370



Internal ID13733688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68230416..68236414hg38UCSC Ensembl
Innerchr9:68231416..68235414hg38UCSC Ensembl
Outerchr9:68229416..68237414hg38UCSC Ensembl
chr9:70845332..70851330hg19UCSC Ensembl
Innerchr9:70846332..70850330hg19UCSC Ensembl
Outerchr9:70844332..70852330hg19UCSC Ensembl
chr9:70035152..70041150hg18UCSC Ensembl
Innerchr9:70036152..70040150hg18UCSC Ensembl
Outerchr9:70034152..70042150hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg385999
hg195999
hg185999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3366188
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697370
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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