A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11365847



Internal ID2184589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:19634532..19727318hg38UCSC Ensembl
Innerchr4:19634532..19727318hg38UCSC Ensembl
Outerchr4:19634032..19727818hg38UCSC Ensembl
chr4:19636155..19728941hg19UCSC Ensembl
Innerchr4:19636155..19728941hg19UCSC Ensembl
Outerchr4:19635655..19729441hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg3892787
hg1992787
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599820
Supporting Variants
SamplesHG01973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11365847
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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