A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4323172



Internal ID11259024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:420825..420825hg38UCSC Ensembl
chr5:420940..420940hg19UCSC Ensembl
chr5:473940..473940hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38202
hg19202
hg18202
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1629964
Supporting Variants
SamplesHuRef
Known GenesAHRR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4323172
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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