A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600252



Internal ID6640516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:37899151..37899637hg38UCSC Ensembl
Innerchr4:37899157..37899632hg38UCSC Ensembl
Outerchr4:37899146..37899643hg38UCSC Ensembl
chr4:37900772..37901258hg19UCSC Ensembl
Innerchr4:37900778..37901253hg19UCSC Ensembl
Outerchr4:37900767..37901264hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11396057, essv11396059, essv11396056, essv11396054, essv11396055, essv11396058
SamplesHG02798, HG02624, HG02623, HG02464, HG03112, HG01556
Known GenesTBC1D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600252
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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