A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11733343



Internal ID1242617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184327913..184337189hg38UCSC Ensembl
chr4:185249066..185258342hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg389277
hg199277
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603457
Supporting Variants
SamplesHG01098
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11733343
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