A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592484



Internal ID6632767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131477920..131527155hg38UCSC Ensembl
chr2:132235493..132284728hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3849236
hg1949236
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10674874, essv10674876, essv10674872, essv10674871, essv10674877, essv10674873, essv10674875
SamplesNA19404, HG00565, HG00728, NA18976, HG03455, HG03854, HG03428
Known GenesLOC150776, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592484
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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