A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674085



Internal ID9593504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14205250..14207147hg38UCSC Ensembl
chr10:14247249..14249146hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381898
hg191898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6414463, essv6374773, essv6277882, essv5400499
SamplesHG00583, NA18543, NA18560, NA18555
Known GenesFRMD4A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674085
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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