A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11553731



Internal ID2224889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105656658..105661945hg38UCSC Ensembl
Innerchr4:105656675..105661928hg38UCSC Ensembl
Outerchr4:105656641..105661962hg38UCSC Ensembl
chr4:106577815..106583102hg19UCSC Ensembl
Innerchr4:106577832..106583085hg19UCSC Ensembl
Outerchr4:106577798..106583119hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg385288
hg195288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601667
Supporting Variants
SamplesHG02002
Known GenesARHGEF38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11553731
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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