A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4340198



Internal ID11622736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138772905..138772980hg38UCSC Ensembl
chr5:138108594..138108669hg19UCSC Ensembl
chr5:138136493..138136568hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1333927
Supporting Variants
SamplesHuRef
Known GenesCTNNA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4340198
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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