A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675398



Internal ID9594817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49197079..49201052hg38UCSC Ensembl
Outerchr3:49197042..49201102hg38UCSC Ensembl
Innerchr3:49234512..49238485hg19UCSC Ensembl
Outerchr3:49234475..49238535hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384061
hg194061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818985
SamplesHG01107
Known GenesCCDC36
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675398
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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