A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599458



Internal ID6986505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4218743..4219514hg38UCSC Ensembl
Innerchr4:4218747..4219511hg38UCSC Ensembl
Outerchr4:4218740..4219518hg38UCSC Ensembl
chr4:4220470..4221241hg19UCSC Ensembl
Innerchr4:4220474..4221238hg19UCSC Ensembl
Outerchr4:4220467..4221245hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11323911, essv11323912, essv11323923, essv11323913, essv11323915, essv11323908, essv11323909, essv11323916, essv11323914, essv11323921, essv11323918, essv11323920, essv11323917, essv11323919, essv11323910, essv11323924, essv11323922
SamplesNA21100, NA20846, HG04144, NA20869, HG03714, NA21098, HG03781, HG03824, NA21141, NA21112, HG03631, HG03634, NA21143, NA21126, NA20888, HG03856, NA21120
Known GenesOTOP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599458
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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