A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581330



Internal ID6706026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87110988..87111319hg38UCSC Ensembl
chr4:88032140..88032471hg19UCSC Ensembl
chr4:88251164..88251495hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38332
hg19332
hg18332
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008659
Supporting Variants
SamplesHuRef
Known GenesAFF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581330
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