A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677561



Internal ID9943666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11878900..11882806hg38UCSC Ensembl
chr2:12019026..12022932hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383907
hg193907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv680e199
Supporting Variantsessv5484620, essv5939567, essv6020736, essv6564071, essv5892922
SamplesNA12058, HG00148, NA19917, HG00133, HG00280
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677561
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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