A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673526



Internal ID9939631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195034183..195034807hg38UCSC Ensembl
Outerchr3:195034146..195034857hg38UCSC Ensembl
Innerchr3:194754912..194755536hg19UCSC Ensembl
Outerchr3:194754875..194755586hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5827685, essv6294152
SamplesNA19436, NA18909
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673526
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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