A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601243



Internal ID6641500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85609236..85612725hg38UCSC Ensembl
Innerchr4:85609264..85612697hg38UCSC Ensembl
Outerchr4:85609208..85612753hg38UCSC Ensembl
chr4:86530389..86533878hg19UCSC Ensembl
Innerchr4:86530417..86533850hg19UCSC Ensembl
Outerchr4:86530361..86533906hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg383490
hg193490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11525000, essv11525001, essv11524999
SamplesHG01142, HG01443, HG04047
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601243
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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