A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11404719



Internal ID4659530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40539286..40607535hg38UCSC Ensembl
Innerchr4:40539786..40607035hg38UCSC Ensembl
Outerchr4:40538286..40608535hg38UCSC Ensembl
chr4:40541303..40609552hg19UCSC Ensembl
Innerchr4:40541803..40609052hg19UCSC Ensembl
Outerchr4:40540303..40610552hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3868250
hg1968250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600310
Supporting Variants
SamplesHG04186
Known GenesRBM47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11404719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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