A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1293475



Internal ID12456597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75503870..75503870hg38UCSC Ensembl
chr5:74799695..74799695hg19UCSC Ensembl
chr5:74835451..74835451hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3623196
SamplesHuRef
Known GenesCOL4A3BP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1293475
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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