A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5659196



Internal ID9539201
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 Flag1
Merged StatusS
Merged Variantsesv2675961
Supporting Variants
SamplesNA19070
Known GenesLONRF2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5659196
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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