A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11632892



Internal ID3328355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138971265..138995729hg38UCSC Ensembl
Innerchr4:138971765..138995229hg38UCSC Ensembl
Outerchr4:138970265..138996729hg38UCSC Ensembl
chr4:139892419..139916883hg19UCSC Ensembl
Innerchr4:139892919..139916383hg19UCSC Ensembl
Outerchr4:139891419..139917883hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg3824465
hg1924465
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602428
Supporting Variants
SamplesHG02973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11632892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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