A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11314832



Internal ID3246448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:442079..503495hg38UCSC Ensembl
Innerchr4:442106..503469hg38UCSC Ensembl
Outerchr4:442053..503522hg38UCSC Ensembl
chr4:435868..497284hg19UCSC Ensembl
Innerchr4:435895..497258hg19UCSC Ensembl
Outerchr4:435842..497311hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3861417
hg1961417
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599371
Supporting Variants
SamplesHG02860
Known GenesABCA11P, PIGG, ZNF721
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11314832
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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