A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3747001



Internal ID11668183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46718993..46718993hg38UCSC Ensembl
chr13:47293128..47293128hg19UCSC Ensembl
chr13:46191129..46191129hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1496328
Supporting Variants
SamplesHuRef
Known GenesLRCH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3747001
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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