A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599543



Internal ID6639807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8229163..8230438hg38UCSC Ensembl
Innerchr4:8229180..8230421hg38UCSC Ensembl
Outerchr4:8229146..8230455hg38UCSC Ensembl
chr4:8230890..8232165hg19UCSC Ensembl
Innerchr4:8230907..8232148hg19UCSC Ensembl
Outerchr4:8230873..8232182hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11337974, essv11337973
SamplesHG04025, NA18879
Known GenesSH3TC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599543
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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