A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5682832



Internal ID9715330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167988785..167992290hg38UCSC Ensembl
Outerchr2:167988748..167992340hg38UCSC Ensembl
Innerchr2:168845295..168848800hg19UCSC Ensembl
Outerchr2:168845258..168848850hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg383593
hg193593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670762
Supporting Variants
SamplesNA19468
Known GenesSTK39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5682832
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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