A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592441



Internal ID6979768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130145821..130197206hg38UCSC Ensembl
chr2:130903394..130954779hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3851386
hg1951386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10670254, essv10670250, essv10670257, essv10670261, essv10670255, essv10670251, essv10670260, essv10670258, essv10670252, essv10670256, essv10670259, essv10670253
SamplesHG02614, NA18550, HG00589, HG02374, HG01840, HG02152, HG01323, NA18976, HG01414, HG03694, HG00565, HG00734
Known GenesMZT2B, SMPD4, TUBA3E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592441
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer