A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661290



Internal ID9580709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67358582..67366285hg38UCSC Ensembl
Outerchr1:67358425..67366438hg38UCSC Ensembl
Innerchr1:67824265..67831968hg19UCSC Ensembl
Outerchr1:67824108..67832121hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg388014
hg198014
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5948126
SamplesHG00448
Known GenesIL12RB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661290
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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