A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666522



Internal ID9585941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:108910519..108913725hg38UCSC Ensembl
Outerchr3:108910148..108914095hg38UCSC Ensembl
Innerchr3:108629366..108632572hg19UCSC Ensembl
Outerchr3:108628995..108632942hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg383948
hg193948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5909904
SamplesNA19921
Known GenesGUCA1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666522
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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