A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1236515



Internal ID12052952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169178316..169178368hg38UCSC Ensembl
chr4:170099467..170099519hg19UCSC Ensembl
chr4:170336042..170336094hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4236447
SamplesHuRef
Known GenesSH3RF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1236515
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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