A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5724044



Internal ID9394501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:9992339..9993387hg38UCSC Ensembl
Outerchr3:9992302..9993437hg38UCSC Ensembl
Innerchr3:10034023..10035071hg19UCSC Ensembl
Outerchr3:10033986..10035121hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661208
Supporting Variants
SamplesNA18597
Known GenesEMC3-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5724044
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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