A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599392



Internal ID6986440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1605686..1622385hg38UCSC Ensembl
Innerchr4:1606186..1621885hg38UCSC Ensembl
Outerchr4:1604686..1623385hg38UCSC Ensembl
chr4:1607413..1624112hg19UCSC Ensembl
Innerchr4:1607913..1623612hg19UCSC Ensembl
Outerchr4:1606413..1625112hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3816700
hg1916700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11315966, essv11315960, essv11315962, essv11315967, essv11315965, essv11315964, essv11315963, essv11315961
SamplesNA21100, NA21115, HG03679, HG03905, HG03908, NA21086, HG04153, HG03985
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599392
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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