A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1645508



Internal ID12808627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110481550..110481700hg38UCSC Ensembl
chr13:111133897..111134047hg19UCSC Ensembl
chr13:109931898..109932048hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38151
hg19151
hg18151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3871881
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1645508
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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