A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587463



Internal ID6974887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143276001..143294560hg38UCSC Ensembl
chr1:149015523..149036627hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3818560
hg1921105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10119832, essv10119830, essv10119831, essv10119828, essv10119829
SamplesNA19909, NA20899, HG04025, NA21123, HG03856
Known GenesLOC101929780
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587463
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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