A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9749823



Internal ID18724069
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 StatusS
Merged Variantsesv3551076
Supporting Variants
Samples
Known GenesCOL4A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9749823
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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