A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11404745



Internal ID5253201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40619537..40627572hg38UCSC Ensembl
Innerchr4:40619537..40627572hg38UCSC Ensembl
Outerchr4:40619037..40628072hg38UCSC Ensembl
chr4:40621554..40629589hg19UCSC Ensembl
Innerchr4:40621554..40629589hg19UCSC Ensembl
Outerchr4:40621054..40630089hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg388036
hg198036
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600313
Supporting Variants
SamplesNA18635
Known GenesRBM47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11404745
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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