A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3791410



Internal ID11970461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11120680..11120680hg38UCSC Ensembl
chr5:11120792..11120792hg19UCSC Ensembl
chr5:11173792..11173792hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38177
hg19177
hg18177
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1539730
Supporting Variants
SamplesHuRef
Known GenesCTNND2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3791410
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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