A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670874



Internal ID9936979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139765113..139816522hg38UCSC Ensembl
Outerchr2:139765076..139816572hg38UCSC Ensembl
Innerchr2:140522682..140574091hg19UCSC Ensembl
Outerchr2:140522645..140574141hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3851497
hg1951497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5502839
SamplesHG00143
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670874
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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