A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4358363



Internal ID11294215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176871870..176871941hg38UCSC Ensembl
chr5:176298871..176298942hg19UCSC Ensembl
chr5:176231477..176231548hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1379063
Supporting Variants
SamplesHuRef
Known GenesUNC5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4358363
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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