A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6454814



Internal ID8988075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17796549..17800454hg38UCSC Ensembl
Outerchr2:17796512..17800504hg38UCSC Ensembl
Innerchr2:17977816..17981721hg19UCSC Ensembl
Outerchr2:17977779..17981771hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg383993
hg193993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672871
Supporting Variants
SamplesHG00583
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6454814
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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