A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11531016



Internal ID2405668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:90403993..90411235hg38UCSC Ensembl
Innerchr4:90404043..90411185hg38UCSC Ensembl
Outerchr4:90403920..90411308hg38UCSC Ensembl
chr4:91325144..91332386hg19UCSC Ensembl
Innerchr4:91325194..91332336hg19UCSC Ensembl
Outerchr4:91325071..91332459hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg387243
hg197243
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601343
Supporting Variants
SamplesHG02133
Known GenesCCSER1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11531016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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