A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670143



Internal ID9589562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3293385..3295583hg38UCSC Ensembl
chr1:3209949..3212147hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382199
hg192199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6317073, essv6423827, essv6215077, essv6330380, essv6527111, essv6405701
SamplesHG00418, NA19003, HG00581, HG00592, HG00427, NA18552
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670143
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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