A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5537808



Internal ID8515211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:233486482..233491236hg38UCSC Ensembl
Outerchr2:233486325..233491389hg38UCSC Ensembl
Innerchr2:234395128..234399882hg19UCSC Ensembl
Outerchr2:234394971..234400035hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg385065
hg195065
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661602
Supporting Variants
SamplesNA18597
Known GenesUSP40
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5537808
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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