A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11020028



Internal ID545353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56852322..56862145hg38UCSC Ensembl
Innerchr3:56852372..56862095hg38UCSC Ensembl
Outerchr3:56852238..56862229hg38UCSC Ensembl
chr3:56886350..56896173hg19UCSC Ensembl
Innerchr3:56886400..56896123hg19UCSC Ensembl
Outerchr3:56886266..56896257hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg389824
hg199824
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596219
Supporting Variants
SamplesHG00237
Known GenesARHGEF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11020028
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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