A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6116547



Internal ID9079838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2808589..2809345hg38UCSC Ensembl
Outerchr4:2808168..2809915hg38UCSC Ensembl
Innerchr4:2810316..2811072hg19UCSC Ensembl
Outerchr4:2809895..2811642hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670229
Supporting Variants
SamplesHG01055
Known GenesSH3BP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6116547
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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