A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6342998



Internal ID9320401
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 StatusS
Merged Variantsesv2678719
Supporting Variants
SamplesNA19334
Known GenesMTHFS, ST20-MTHFS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6342998
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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