A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5672211



Internal ID8649614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130693403..131300072hg38UCSC Ensembl
Outerchr2:130693369..131300107hg38UCSC Ensembl
Innerchr2:131450976..132057645hg19UCSC Ensembl
Outerchr2:131450942..132057680hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38606739
hg19606739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663589
Supporting Variants
SamplesNA18873
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5672211
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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