A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3555019



Internal ID18409409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:8634171..8634279hg38UCSC Ensembl
Outerchr18:8634162..8634287hg38UCSC Ensembl
Innerchr18:8634169..8634277hg19UCSC Ensembl
Outerchr18:8634160..8634285hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9753766
Samples
Known GenesRAB12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3555019
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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