A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5686597



Internal ID9417215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212871074..212876508hg38UCSC Ensembl
Outerchr2:212871037..212876558hg38UCSC Ensembl
Innerchr2:213735798..213741232hg19UCSC Ensembl
Outerchr2:213735761..213741282hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg385522
hg195522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663998
Supporting Variants
SamplesNA18619
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5686597
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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