A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000819



Internal ID7065948
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565210
SamplesHuRef
Known GenesEVC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000819
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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