A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663122



Internal ID9929227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227404174..227405348hg38UCSC Ensembl
Innerchr2:228268890..228270064hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv762e199
Supporting Variantsessv6302891, essv6492073, essv6265520, essv5399054, essv5557373
SamplesNA18861, NA18507, NA19238, NA19240, NA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663122
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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