A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665699



Internal ID9931804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:67385070..67386148hg38UCSC Ensembl
chr2:67612202..67613280hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5938976, essv5942594, essv6359073, essv5619556, essv5675902
SamplesNA19394, NA19461, NA19256, NA18517, NA18873
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665699
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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