A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11718812



Internal ID2252948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:177045050..177111808hg38UCSC Ensembl
Innerchr4:177045050..177111808hg38UCSC Ensembl
Outerchr4:177044550..177112308hg38UCSC Ensembl
chr4:177966204..178032962hg19UCSC Ensembl
Innerchr4:177966204..178032962hg19UCSC Ensembl
Outerchr4:177965704..178033462hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3866759
hg1966759
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603290
Supporting Variants
SamplesHG02016
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11718812
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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