A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668328



Internal ID9587747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17684066..17686223hg38UCSC Ensembl
Outerchr2:17684029..17686273hg38UCSC Ensembl
Innerchr2:17865333..17867490hg19UCSC Ensembl
Outerchr2:17865296..17867540hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv685e199
Supporting Variantsessv5844827
SamplesHG00501
Known GenesSMC6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668328
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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