A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358674



Internal ID14858936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94948424..94948436hg38UCSC Ensembl
Innerchr9:94948418..94948440hg38UCSC Ensembl
Outerchr9:94948408..94948452hg38UCSC Ensembl
chr9:97710706..97710718hg19UCSC Ensembl
Innerchr9:97710700..97710722hg19UCSC Ensembl
Outerchr9:97710690..97710734hg19UCSC Ensembl
chr9:96750527..96750539hg18UCSC Ensembl
Innerchr9:96750543..96750521hg18UCSC Ensembl
Outerchr9:96750511..96750555hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8945527, essv8945542, essv8945535, essv8945531, essv8945530, essv8945529, essv8945541, essv8945534, essv8945539, essv8945528, essv8945540, essv8945533, essv8945537, essv8945538, essv8945532, essv8945543
SamplesNA18870, NA18523, NA19114, NA18501, NA19257, NA19190, NA19129, NA18498, NA19102, NA18522, NA18510, NA18858, NA18940, NA18907, NA18909, NA19116
Known GenesC9orf3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358674
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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