A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438644



Internal ID14938911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141313777..141313782hg38UCSC Ensembl
Innerchr7:141313770..141313789hg38UCSC Ensembl
Outerchr7:141313765..141313794hg38UCSC Ensembl
chr7:141013577..141013582hg19UCSC Ensembl
Innerchr7:141013570..141013589hg19UCSC Ensembl
Outerchr7:141013565..141013594hg19UCSC Ensembl
chr7:140660046..140660051hg18UCSC Ensembl
Innerchr7:140660058..140660039hg18UCSC Ensembl
Outerchr7:140660034..140660063hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8937834, essv8937829, essv8937837, essv8937830, essv8937835, essv8937828, essv8937831, essv8937839, essv8937840, essv8937826, essv8937832, essv8937833, essv8937841, essv8937838, essv8937827
SamplesNA12717, NA11830, NA12045, NA12155, NA07357, NA11992, NA11918, NA07347, NA12761, NA12156, NA12003, NA18572, NA11919, NA12043, NA12776
Known GenesTMEM178B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438644
Frequency
Sample Size185
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer