A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1425348



Internal ID12588470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:82258891..82258891hg38UCSC Ensembl
chr13:82833026..82833026hg19UCSC Ensembl
chr13:81731027..81731027hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3977149
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1425348
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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