A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3584617



Internal ID7055999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138045057..138046063hg38UCSC Ensembl
chr4:138966211..138967217hg19UCSC Ensembl
chr4:139185661..139186667hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg381007
hg191007
hg181007
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000158
Supporting Variants
SamplesHuRef
Known GenesLINC00616
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3584617
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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