A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600369



Internal ID6987413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:43264796..43272548hg38UCSC Ensembl
Innerchr4:43264796..43272548hg38UCSC Ensembl
Outerchr4:43264527..43272783hg38UCSC Ensembl
chr4:43266813..43274565hg19UCSC Ensembl
Innerchr4:43266813..43274565hg19UCSC Ensembl
Outerchr4:43266544..43274800hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg387753
hg197753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11413413, essv11413414, essv11413412
SamplesNA18638, HG01596, HG02391
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600369
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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