A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307580



Internal ID14807842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141313778..141313779hg38UCSC Ensembl
Innerchr7:141313762..141313795hg38UCSC Ensembl
Outerchr7:141313761..141313796hg38UCSC Ensembl
chr7:141013578..141013579hg19UCSC Ensembl
Innerchr7:141013562..141013595hg19UCSC Ensembl
Outerchr7:141013561..141013596hg19UCSC Ensembl
chr7:140660047..140660048hg18UCSC Ensembl
Innerchr7:140660064..140660031hg18UCSC Ensembl
Outerchr7:140660030..140660065hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7780129, essv7776097, essv7833752, essv7797410, essv7835531, essv7799311, essv7776710, essv7800835, essv7790395, essv7814847, essv7801346, essv7822322, essv7802532, essv7817512, essv7833233, essv7829840, essv7804837, essv7835142, essv7795643, essv7777209, essv7801826
SamplesNA12043, NA07347, NA11918, NA12776, NA19143, NA11919, NA12155, NA07357, NA12814, NA12761, NA12892, NA18572, NA12891, NA12156, NA12878, NA11830, NA11992, NA12003, NA12045, NA12717, NA12874
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307580
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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