A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600498



Internal ID6987541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52302301..52305645hg38UCSC Ensembl
Innerchr4:52302318..52305628hg38UCSC Ensembl
Outerchr4:52302284..52305662hg38UCSC Ensembl
chr4:53168467..53171811hg19UCSC Ensembl
Innerchr4:53168484..53171794hg19UCSC Ensembl
Outerchr4:53168450..53171828hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg383345
hg193345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11430914, essv11430913
SamplesHG02890, HG03473
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600498
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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