A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10399630



Internal ID363731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4009986..4053867hg38UCSC Ensembl
Innerchr2:4009986..4053867hg38UCSC Ensembl
Outerchr2:4009486..4054367hg38UCSC Ensembl
chr2:4057576..4101458hg19UCSC Ensembl
Innerchr2:4057576..4101458hg19UCSC Ensembl
Outerchr2:4057076..4101958hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3843882
hg1943883
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589672
Supporting Variants
SamplesHG00103
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10399630
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