A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5759253



Internal ID8736656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84452483..84456499hg38UCSC Ensembl
Outerchr2:84452446..84456549hg38UCSC Ensembl
Innerchr2:84679607..84683623hg19UCSC Ensembl
Outerchr2:84679570..84683673hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384104
hg194104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2677941
Supporting Variants
SamplesNA19350
Known GenesSUCLG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5759253
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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