A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678729



Internal ID9598148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203821314..203824202hg38UCSC Ensembl
Outerchr1:203821277..203824252hg38UCSC Ensembl
Innerchr1:203790442..203793330hg19UCSC Ensembl
Outerchr1:203790405..203793380hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382976
hg192976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5533745
SamplesNA18550
Known GenesZC3H11A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678729
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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