A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670231



Internal ID9936336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28419738..28422939hg38UCSC Ensembl
Outerchr2:28419701..28422989hg38UCSC Ensembl
Innerchr2:28642605..28645806hg19UCSC Ensembl
Outerchr2:28642568..28645856hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg383289
hg193289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6412105
SamplesHG00553
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670231
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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