A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393597



Internal ID14893876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85686801..85686820hg38UCSC Ensembl
Innerchr4:85686797..85686824hg38UCSC Ensembl
Outerchr4:85686778..85686843hg38UCSC Ensembl
chr4:86607954..86607973hg19UCSC Ensembl
Innerchr4:86607950..86607977hg19UCSC Ensembl
Outerchr4:86607931..86607996hg19UCSC Ensembl
chr4:86826978..86826997hg18UCSC Ensembl
Innerchr4:86827001..86826974hg18UCSC Ensembl
Outerchr4:86826955..86827020hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8678911
SamplesNA12878
Known GenesARHGAP24
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393597
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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