A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1351588



Internal ID12168024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152357580..152357670hg38UCSC Ensembl
chr2:153214094..153214184hg19UCSC Ensembl
chr2:152922340..152922430hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3923655
SamplesHuRef
Known GenesFMNL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1351588
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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