A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595271



Internal ID6982589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:10231881..10239570hg38UCSC Ensembl
Innerchr3:10231881..10239570hg38UCSC Ensembl
Outerchr3:10231673..10239784hg38UCSC Ensembl
chr3:10273565..10281254hg19UCSC Ensembl
Innerchr3:10273565..10281254hg19UCSC Ensembl
Outerchr3:10273357..10281468hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg387690
hg197690
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10918631, essv10918632, essv10918633
SamplesHG00650, NA18526, HG00513
Known GenesIRAK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595271
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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