A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673963



Internal ID9940068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:173935931..173938726hg38UCSC Ensembl
Outerchr2:173935861..173938807hg38UCSC Ensembl
Innerchr2:174800659..174803454hg19UCSC Ensembl
Outerchr2:174800589..174803535hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382947
hg192947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5865603
SamplesHG00331
Known GenesSP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673963
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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