A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592483



Internal ID6632766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131477920..131527155hg38UCSC Ensembl
chr2:132235493..132284728hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3849236
hg1949236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10674870, essv10674869
SamplesHG01600, HG02614
Known GenesLOC150776, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592483
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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