A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1176499



Internal ID11992937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176872296..176872464hg38UCSC Ensembl
chr5:176299297..176299465hg19UCSC Ensembl
chr5:176231903..176232071hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3866014
SamplesHuRef
Known GenesUNC5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1176499
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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