A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696717



Internal ID15059127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:40321138..40331936hg38UCSC Ensembl
Innerchr9:40322138..40330936hg38UCSC Ensembl
Outerchr9:40320138..40332936hg38UCSC Ensembl
chr9:42466156..42476954hg19UCSC Ensembl
Innerchr9:42467156..42475954hg19UCSC Ensembl
Outerchr9:42465156..42477954hg19UCSC Ensembl
chr9:42456152..42466950hg18UCSC Ensembl
Innerchr9:42457152..42465950hg18UCSC Ensembl
Outerchr9:42455152..42467950hg18UCSC Ensembl
Cytoband9p11.2
Allele length
AssemblyAllele length
hg3810799
hg1910799
hg1810799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3385499
Supporting Variants
SamplesNA19239
Known GenesFAM95B1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696717
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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