A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5439960



Internal ID9341284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20569222..20576050hg38UCSC Ensembl
Outerchr2:20569065..20576203hg38UCSC Ensembl
Innerchr2:20768982..20775810hg19UCSC Ensembl
Outerchr2:20768825..20775963hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg387139
hg197139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659673
Supporting Variants
SamplesNA18538
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5439960
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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