A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594603



Internal ID6981923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230544007..230571131hg38UCSC Ensembl
chr2:231408722..231435846hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3827125
hg1927125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875018, essv10875016, essv10875017
SamplesHG03593, HG04229, NA20530
Known GenesSP100
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594603
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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