A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672359



Internal ID9938464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120669737..120670512hg38UCSC Ensembl
chr2:121427313..121428088hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5677676, essv6244232, essv5848445, essv5781946
SamplesHG00560, NA19000, NA18541, NA18622
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672359
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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