A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10597251



Internal ID4425467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100598933..100617261hg38UCSC Ensembl
chr2:101215395..101233723hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3818329
hg1918329
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591756
Supporting Variants
SamplesHG03940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10597251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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