A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3093790



Internal ID10766770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19147213..19147487hg38UCSC Ensembl
Outerchr19:19258022..19258296hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7363357
SamplesHuRef
Known GenesMEF2B, MEF2BNB-MEF2B
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3093790
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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