A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696965



Internal ID13660864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:62357255..62364853hg38UCSC Ensembl
Innerchr9:62358255..62363853hg38UCSC Ensembl
Outerchr9:62356255..62365853hg38UCSC Ensembl
chr9:46668556..46676154hg19UCSC Ensembl
Innerchr9:46669556..46675154hg19UCSC Ensembl
Outerchr9:46667556..46677154hg19UCSC Ensembl
chr9:46508552..46516150hg18UCSC Ensembl
Innerchr9:46509552..46515150hg18UCSC Ensembl
Outerchr9:46507552..46517150hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg387599
hg197599
hg187599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3334124
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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