A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5918351



Internal ID8895754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241115866..241116149hg38UCSC Ensembl
Outerchr2:241115822..241116199hg38UCSC Ensembl
Innerchr2:242055281..242055564hg19UCSC Ensembl
Outerchr2:242055237..242055614hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38378
hg19378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2667460
Supporting Variants
SamplesNA12283
Known GenesPASK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5918351
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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