A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10406869



Internal ID617832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10193998..10246729hg38UCSC Ensembl
chr2:10334124..10386855hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3852732
hg1952732
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589793
Supporting Variants
SamplesHG00269
Known GenesC2orf48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10406869
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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