A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1257075



Internal ID12073512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46464153..46464153hg38UCSC Ensembl
chr13:47038288..47038288hg19UCSC Ensembl
chr13:45936289..45936289hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3970527
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1257075
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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