A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5557373



Internal ID9558390
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 Flag1
Merged StatusS
Merged Variantsesv2663122
Supporting Variants
SamplesNA19093
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5557373
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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