A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601252



Internal ID6641509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85930941..85937751hg38UCSC Ensembl
Innerchr4:85930944..85937749hg38UCSC Ensembl
Outerchr4:85930939..85937754hg38UCSC Ensembl
chr4:86852094..86858904hg19UCSC Ensembl
Innerchr4:86852097..86858902hg19UCSC Ensembl
Outerchr4:86852092..86858907hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg386811
hg196811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11526658, essv11526661, essv11526659, essv11526660
SamplesHG03861, HG03985, HG03736, HG04153
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601252
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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