A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671612



Internal ID9591031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:68482946..68489080hg38UCSC Ensembl
Outerchr2:68482909..68489130hg38UCSC Ensembl
Innerchr2:68710078..68716212hg19UCSC Ensembl
Outerchr2:68710041..68716262hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386222
hg196222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6552144
SamplesNA18499
Known GenesAPLF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671612
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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