A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5444886



Internal ID9690781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:44822000..44822989hg38UCSC Ensembl
Outerchr13:44821843..44823142hg38UCSC Ensembl
Innerchr13:45396136..45397125hg19UCSC Ensembl
Outerchr13:45395979..45397278hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657381
Supporting Variants
SamplesNA19440
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5444886
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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