A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5888942



Internal ID8866345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19147209..19147483hg38UCSC Ensembl
chr19:19258018..19258292hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677504
Supporting Variants
SamplesHG00260
Known GenesMEF2B, MEF2BNB-MEF2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5888942
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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