A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600310



Internal ID6987354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40539286..40607535hg38UCSC Ensembl
Innerchr4:40539786..40607035hg38UCSC Ensembl
Outerchr4:40538286..40608535hg38UCSC Ensembl
chr4:40541303..40609552hg19UCSC Ensembl
Innerchr4:40541803..40609052hg19UCSC Ensembl
Outerchr4:40540303..40610552hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3868250
hg1968250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11404719
SamplesHG04186
Known GenesRBM47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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