A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11732418



Internal ID4925066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183495778..183496910hg38UCSC Ensembl
Innerchr4:183495804..183496884hg38UCSC Ensembl
Outerchr4:183495752..183496936hg38UCSC Ensembl
chr4:184416931..184418063hg19UCSC Ensembl
Innerchr4:184416957..184418037hg19UCSC Ensembl
Outerchr4:184416905..184418089hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg381133
hg191133
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603440
Supporting Variants
SamplesNA12762
Known GenesLOC389247
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11732418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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