A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5781382



Internal ID9724331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211027387..211036873hg38UCSC Ensembl
Outerchr2:211027350..211036923hg38UCSC Ensembl
Innerchr2:211892111..211901597hg19UCSC Ensembl
Outerchr2:211892074..211901647hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg389574
hg199574
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666535
Supporting Variants
SamplesNA19474
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5781382
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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