A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1591742



Internal ID12408177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149198054..149198117hg38UCSC Ensembl
chr5:148577617..148577680hg19UCSC Ensembl
chr5:148557810..148557873hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4068386
SamplesHuRef
Known GenesABLIM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1591742
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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