A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11494468



Internal ID1496284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:71079818..71090228hg38UCSC Ensembl
Innerchr4:71079818..71090228hg38UCSC Ensembl
Outerchr4:71079548..71090482hg38UCSC Ensembl
chr4:71945535..71955945hg19UCSC Ensembl
Innerchr4:71945535..71955945hg19UCSC Ensembl
Outerchr4:71945265..71956199hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3810411
hg1910411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600945
Supporting Variants
SamplesHG01971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11494468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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