A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3632934



Internal ID11782247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46460550..46460550hg38UCSC Ensembl
chr13:47034685..47034685hg19UCSC Ensembl
chr13:45932686..45932686hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1512990
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3632934
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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