A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11525009



Internal ID1526825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85650144..85651755hg38UCSC Ensembl
Innerchr4:85650145..85651754hg38UCSC Ensembl
Outerchr4:85650143..85651756hg38UCSC Ensembl
chr4:86571297..86572908hg19UCSC Ensembl
Innerchr4:86571298..86572907hg19UCSC Ensembl
Outerchr4:86571296..86572909hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg381612
hg191612
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601245
Supporting Variants
SamplesHG01882
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11525009
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer