A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551075



Internal ID18752151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110160169..110160456hg38UCSC Ensembl
Outerchr13:110160113..110160500hg38UCSC Ensembl
Innerchr13:110812516..110812803hg19UCSC Ensembl
Outerchr13:110812460..110812847hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749822
Samples
Known GenesCOL4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551075
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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