A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600307



Internal ID6987351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40519414..40529350hg38UCSC Ensembl
Innerchr4:40519914..40528850hg38UCSC Ensembl
Outerchr4:40518414..40530350hg38UCSC Ensembl
chr4:40521431..40531367hg19UCSC Ensembl
Innerchr4:40521931..40530867hg19UCSC Ensembl
Outerchr4:40520431..40532367hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg389937
hg199937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11404646, essv11404648, essv11404645, essv11404644, essv11404647, essv11404643
SamplesNA18545, HG02058, HG02384, HG02140, HG02064, NA19783
Known GenesRBM47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600307
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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