A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596219



Internal ID6983536
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11020028
SamplesHG00237
Known GenesARHGEF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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