A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3551076



Internal ID18752152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110222493..110222791hg38UCSC Ensembl
Outerchr13:110222471..110222804hg38UCSC Ensembl
Innerchr13:110874840..110875138hg19UCSC Ensembl
Outerchr13:110874818..110875151hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749823
Samples
Known GenesCOL4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3551076
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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