A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670321



Internal ID9589740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63457332..63464653hg38UCSC Ensembl
Outerchr14:63457295..63464703hg38UCSC Ensembl
Innerchr14:63924050..63931371hg19UCSC Ensembl
Outerchr14:63924013..63931421hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387409
hg197409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6330355
SamplesNA18990
Known GenesPPP2R5E
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670321
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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