A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550444



Internal ID18404834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:49377434..49379648hg38UCSC Ensembl
Outerchr13:49376965..49379856hg38UCSC Ensembl
Innerchr13:49951570..49953784hg19UCSC Ensembl
Outerchr13:49951101..49953992hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382892
hg192892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749191
Samples
Known GenesCAB39L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550444
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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