A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600433



Internal ID6987476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46489442..46491726hg38UCSC Ensembl
Innerchr4:46489489..46491680hg38UCSC Ensembl
Outerchr4:46489396..46491773hg38UCSC Ensembl
chr4:46491459..46493743hg19UCSC Ensembl
Innerchr4:46491506..46493697hg19UCSC Ensembl
Outerchr4:46491413..46493790hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg382285
hg192285
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11424952, essv11424953, essv11424950, essv11424951
SamplesHG03130, NA19393, HG02284, HG03198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600433
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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