A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576609



Internal ID6701305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152348809..152349135hg38UCSC Ensembl
chr2:153205323..153205649hg19UCSC Ensembl
chr2:152913569..152913895hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007811
Supporting Variants
SamplesHuRef
Known GenesFMNL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576609
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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