A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5609075



Internal ID9710454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231984864..231992437hg38UCSC Ensembl
Outerchr2:231984827..231992487hg38UCSC Ensembl
Innerchr2:232849574..232857147hg19UCSC Ensembl
Outerchr2:232849537..232857197hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387661
hg197661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2671155
Supporting Variants
SamplesNA19462
Known GenesDIS3L2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5609075
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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