A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668397



Internal ID9934502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183124840..183125377hg38UCSC Ensembl
Outerchr2:183124803..183125427hg38UCSC Ensembl
Innerchr2:183989568..183990105hg19UCSC Ensembl
Outerchr2:183989531..183990155hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6528683, essv6450189
SamplesNA18870, NA19657
Known GenesNUP35
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668397
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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