A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4171734



Internal ID11107586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176859489..176859852hg38UCSC Ensembl
chr5:176286490..176286853hg19UCSC Ensembl
chr5:176219096..176219459hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38364
hg19364
hg18364
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1776918
Supporting Variants
SamplesHuRef
Known GenesUNC5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4171734
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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