A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3658260



Internal ID12103609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:68372443..68372443hg38UCSC Ensembl
chr11:68139911..68139911hg19UCSC Ensembl
chr11:67896487..67896487hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1742622
Supporting Variants
SamplesHuRef
Known GenesLRP5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3658260
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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