A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11404718



Internal ID6264362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40537525..40541332hg38UCSC Ensembl
Innerchr4:40537550..40541307hg38UCSC Ensembl
Outerchr4:40537500..40541357hg38UCSC Ensembl
chr4:40539542..40543349hg19UCSC Ensembl
Innerchr4:40539567..40543324hg19UCSC Ensembl
Outerchr4:40539517..40543374hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg383808
hg193808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600309
Supporting Variants
SamplesNA19783
Known GenesRBM47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11404718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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