A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3388375



Internal ID15235343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145691740..145694385hg38UCSC Ensembl
Innerchr4:145692805..145693730hg38UCSC Ensembl
Outerchr4:145691630..145694505hg38UCSC Ensembl
chr4:146612892..146615537hg19UCSC Ensembl
Innerchr4:146613957..146614882hg19UCSC Ensembl
Outerchr4:146612782..146615657hg19UCSC Ensembl
chr4:146832342..146834987hg18UCSC Ensembl
Innerchr4:146834332..146833407hg18UCSC Ensembl
Outerchr4:146832232..146835107hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382646
hg192646
hg182646
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809226
SamplesNA12878
Known GenesC4orf51
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3388375
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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