A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675961



Internal ID9942066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100278153..100281222hg38UCSC Ensembl
Outerchr2:100277996..100281375hg38UCSC Ensembl
Innerchr2:100894615..100897684hg19UCSC Ensembl
Outerchr2:100894458..100897837hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383380
hg193380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5659196
SamplesNA19070
Known GenesLONRF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675961
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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