A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1372661



Internal ID12535783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2450797..2451130hg38UCSC Ensembl
chr19:2450795..2451128hg19UCSC Ensembl
chr19:2401795..2402128hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3919078
SamplesHuRef
Known GenesLMNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1372661
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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