A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1304752



Internal ID12467875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134792852..134792922hg38UCSC Ensembl
chr9:137684698..137684768hg19UCSC Ensembl
chr9:136824519..136824589hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3871
hg1971
hg1871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3734087
SamplesHuRef
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1304752
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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