A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9615201



Internal ID13606555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53511052..53511071hg38UCSC Ensembl
Innerchr4:53511048..53511075hg38UCSC Ensembl
Outerchr4:53511029..53511094hg38UCSC Ensembl
chr4:54377219..54377238hg19UCSC Ensembl
Innerchr4:54377215..54377242hg19UCSC Ensembl
Outerchr4:54377196..54377261hg19UCSC Ensembl
chr4:54071976..54071995hg18UCSC Ensembl
Innerchr4:54071999..54071972hg18UCSC Ensembl
Outerchr4:54071953..54072018hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3339869
Supporting Variants
SamplesNA12815
Known GenesLNX1, LNX1-AS1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9615201
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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