A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574551



Internal ID7045933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5811779..5811836hg38UCSC Ensembl
chr4:5813506..5813563hg19UCSC Ensembl
chr4:5864407..5864464hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991561
Supporting Variants
SamplesHuRef
Known GenesEVC
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574551
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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