A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601274



Internal ID6641531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87364198..87422760hg38UCSC Ensembl
Innerchr4:87364198..87422760hg38UCSC Ensembl
Outerchr4:87363698..87423260hg38UCSC Ensembl
chr4:88285350..88343912hg19UCSC Ensembl
Innerchr4:88285350..88343912hg19UCSC Ensembl
Outerchr4:88284850..88344412hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3858563
hg1958563
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11527471
SamplesHG03240
Known GenesHSD17B11, NUDT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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