A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11404642



Internal ID6264167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40503586..40567568hg38UCSC Ensembl
chr4:40505603..40569585hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3863983
hg1963983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600306
Supporting Variants
SamplesNA19783
Known GenesRBM47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11404642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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