A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551077



Internal ID18752153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110408803..110408975hg38UCSC Ensembl
Outerchr13:110408786..110409014hg38UCSC Ensembl
Innerchr13:111061150..111061322hg19UCSC Ensembl
Outerchr13:111061133..111061361hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749824
Samples
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551077
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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