A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673990



Internal ID9593409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:102314987..102320408hg38UCSC Ensembl
Outerchr2:102314830..102320561hg38UCSC Ensembl
Innerchr2:102931447..102936868hg19UCSC Ensembl
Outerchr2:102931290..102937021hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg385732
hg195732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5849858, essv5568533
SamplesNA19466, NA19338
Known GenesIL1RL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673990
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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