A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307403



Internal ID14807665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:94948419..94948420hg38UCSC Ensembl
Innerchr9:94948402..94948437hg38UCSC Ensembl
Outerchr9:94948401..94948438hg38UCSC Ensembl
chr9:97710701..97710702hg19UCSC Ensembl
Innerchr9:97710684..97710719hg19UCSC Ensembl
Outerchr9:97710683..97710720hg19UCSC Ensembl
chr9:96750522..96750523hg18UCSC Ensembl
Innerchr9:96750540..96750505hg18UCSC Ensembl
Outerchr9:96750504..96750541hg18UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7831607, essv7832462, essv7836347, essv7771658, essv7782310, essv7805659, essv7816004, essv7799825, essv7835965, essv7816335, essv7779279, essv7817948, essv7811934, essv7778071, essv7778734, essv7817151, essv7775411, essv7797064, essv7828234, essv7805374
SamplesNA18870, NA18523, NA19114, NA18501, NA19257, NA19239, NA19190, NA19129, NA18498, NA19102, NA18522, NA19238, NA18510, NA18858, NA19141, NA18940, NA18907, NA18909, NA19116, NA19240
Known GenesC9orf3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307403
Frequency
Sample Size185
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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