A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527471



Internal ID1529287
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601274
Supporting Variants
SamplesHG03240
Known GenesHSD17B11, NUDT9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527471
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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