A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11653398



Internal ID6457012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151166990..151169014hg38UCSC Ensembl
Innerchr4:151166990..151169014hg38UCSC Ensembl
Outerchr4:151166719..151169299hg38UCSC Ensembl
chr4:152088142..152090166hg19UCSC Ensembl
Innerchr4:152088142..152090166hg19UCSC Ensembl
Outerchr4:152087871..152090451hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg382025
hg192025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602677
Supporting Variants
SamplesNA20515
Known GenesSH3D19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11653398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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