A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678719



Internal ID9598138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:79874161..79879033hg38UCSC Ensembl
chr15:80166503..80171375hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg384873
hg194873
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6506455, essv6587842, essv5677569, essv6458098, essv6342998
SamplesNA19382, HG01187, NA19380, NA19334, NA20826
Known GenesMTHFS, ST20-MTHFS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678719
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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