A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665020



Internal ID9584439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3146919..3147039hg38UCSC Ensembl
chr1:3063483..3063603hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6173071, essv5507240, essv6558192, essv6163417, essv5541041, essv5559955, essv6442376, essv5723740, essv5580727, essv6030097, essv5812738, essv5458481, essv5403763, essv5599691, essv6022081, essv5502467, essv6116403, essv6234778, essv5787323, essv6159727, essv6165957
SamplesHG00607, NA18595, HG00705, HG00657, HG00683, HG00581, HG00335, NA18949, HG00583, NA18623, NA18547, HG00662, NA19002, NA18562, HG00654, NA18610, NA18611, HG00473, HG00702, HG00531, HG00327
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665020
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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