A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11540418



Internal ID5100550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:95933632..95997512hg38UCSC Ensembl
Innerchr4:95933652..95997492hg38UCSC Ensembl
Outerchr4:95933612..95997532hg38UCSC Ensembl
chr4:96854783..96918663hg19UCSC Ensembl
Innerchr4:96854803..96918643hg19UCSC Ensembl
Outerchr4:96854763..96918683hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3863881
hg1963881
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601478
Supporting Variants
SamplesNA18553
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11540418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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