A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5418736



Internal ID9001109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:58461811..58464057hg38UCSC Ensembl
Outerchr2:58461654..58464210hg38UCSC Ensembl
Innerchr2:58688946..58691192hg19UCSC Ensembl
Outerchr2:58688789..58691345hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg382557
hg192557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673607
Supporting Variants
SamplesHG00608
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5418736
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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