A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11517465



Internal ID1519281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:81014179..81029827hg38UCSC Ensembl
Innerchr4:81014184..81029823hg38UCSC Ensembl
Outerchr4:81014175..81029832hg38UCSC Ensembl
chr4:81935333..81950981hg19UCSC Ensembl
Innerchr4:81935338..81950977hg19UCSC Ensembl
Outerchr4:81935329..81950986hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3815649
hg1915649
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601145
Supporting Variants
SamplesHG01810
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11517465
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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