A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10674239



Internal ID4293148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131402437..131431447hg38UCSC Ensembl
chr2:132160010..132189020hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3829011
hg1929011
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592481
Supporting Variants
SamplesHG03854
Known GenesLINC01120
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10674239
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