A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599373



Internal ID6986421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:483251..490320hg38UCSC Ensembl
Innerchr4:483751..489820hg38UCSC Ensembl
Outerchr4:482251..491320hg38UCSC Ensembl
chr4:477040..484109hg19UCSC Ensembl
Innerchr4:477540..483609hg19UCSC Ensembl
Outerchr4:476040..485109hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg387070
hg197070
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11314834, essv11314835
SamplesHG02860, NA18544
Known GenesZNF721
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599373
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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