A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11526657



Internal ID1528473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85833655..85838330hg38UCSC Ensembl
Innerchr4:85833678..85838307hg38UCSC Ensembl
Outerchr4:85833632..85838353hg38UCSC Ensembl
chr4:86754808..86759483hg19UCSC Ensembl
Innerchr4:86754831..86759460hg19UCSC Ensembl
Outerchr4:86754785..86759506hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg384676
hg194676
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601251
Supporting Variants
SamplesHG01431
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11526657
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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