A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6167263



Internal ID9389471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122990473..122991370hg38UCSC Ensembl
Outerchr3:122990434..122991427hg38UCSC Ensembl
Innerchr3:122709320..122710217hg19UCSC Ensembl
Outerchr3:122709281..122710274hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678374
Supporting Variants
SamplesNA18592
Known GenesSEMA5B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6167263
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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