A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11390871



Internal ID4629702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:34510693..34516131hg38UCSC Ensembl
Innerchr4:34510705..34516119hg38UCSC Ensembl
Outerchr4:34510681..34516143hg38UCSC Ensembl
chr4:34512315..34517753hg19UCSC Ensembl
Innerchr4:34512327..34517741hg19UCSC Ensembl
Outerchr4:34512303..34517765hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg385439
hg195439
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600172
Supporting Variants
SamplesHG04161
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11390871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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