A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657296



Internal ID9923401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233373744..233376708hg38UCSC Ensembl
Outerchr2:233373707..233376758hg38UCSC Ensembl
Innerchr2:234282390..234285354hg19UCSC Ensembl
Outerchr2:234282353..234285404hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383052
hg193052
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5430932
SamplesNA18536
Known GenesDGKD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657296
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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