A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672919



Internal ID9939024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:80008359..80023434hg38UCSC Ensembl
Outerchr2:80008322..80023484hg38UCSC Ensembl
Innerchr2:80235485..80250560hg19UCSC Ensembl
Outerchr2:80235448..80250610hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3815163
hg1915163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6092338
SamplesNA11932
Known GenesCTNNA2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672919
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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