A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5806358



Internal ID9265683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207362316..207367116hg38UCSC Ensembl
Outerchr2:207362279..207367166hg38UCSC Ensembl
Innerchr2:208227040..208231840hg19UCSC Ensembl
Outerchr2:208227003..208231890hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg384888
hg194888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2674852
Supporting Variants
SamplesNA12341
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5806358
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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