A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11653086



Internal ID1654902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150630457..150647960hg38UCSC Ensembl
Innerchr4:150630479..150647938hg38UCSC Ensembl
Outerchr4:150630435..150647982hg38UCSC Ensembl
chr4:151551609..151569112hg19UCSC Ensembl
Innerchr4:151551631..151569090hg19UCSC Ensembl
Outerchr4:151551587..151569134hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3817504
hg1917504
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602658
Supporting Variants
SamplesHG00250
Known GenesLRBA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11653086
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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