A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11424959



Internal ID5875736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46772623..46774449hg38UCSC Ensembl
Innerchr4:46772623..46774449hg38UCSC Ensembl
Outerchr4:46772521..46774524hg38UCSC Ensembl
chr4:46774640..46776466hg19UCSC Ensembl
Innerchr4:46774640..46776466hg19UCSC Ensembl
Outerchr4:46774538..46776541hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381827
hg191827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600436
Supporting Variants
SamplesNA19257
Known GenesCOX7B2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11424959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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