A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550301



Internal ID18751377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:34984864..34990363hg38UCSC Ensembl
Outerchr13:34984364..34990937hg38UCSC Ensembl
Innerchr13:35559001..35564500hg19UCSC Ensembl
Outerchr13:35558501..35565074hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg386574
hg196574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749048
Samples
Known GenesNBEA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550301
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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