A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4215369



Internal ID11497907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170133480..170133480hg38UCSC Ensembl
chr5:169560484..169560484hg19UCSC Ensembl
chr5:169493062..169493062hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38260
hg19260
hg18260
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1113433
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4215369
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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