A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565210



Internal ID7036592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5655210..5662856hg38UCSC Ensembl
Outerchr4:5656937..5664583hg19UCSC Ensembl
Outerchr4:5707838..5715484hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387647
hg197647
hg187647
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000819
Supporting Variants
SamplesHuRef
Known GenesEVC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565210
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